MECP2 methyl-CpG binding protein 2
Model Species
Mus musculusGene Aliases
1500041B07Rik, D630021H01Rik, Mbd5, WBP10Models / Rescue Models
95 / 27Rescue Model
-Model Summary
Mecp2 duplication caused intellectual disability and autism; restoration of MeCP2 copy number in the adult abrogates the symptoms of autism.
External Links
Reports related to MECP2 (38 Reports)
| # | Type | Title | Author, Year |
|---|---|---|---|
| 1 | Rett Syndrome | A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome. | Guy J , et al. (2001) |
| 2 | Rett Syndrome | Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice. | Chen RZ , et al. (2001) |
| 3 | ASD | Mild overexpression of MeCP2 causes a progressive neurological disorder in mice. | Collins AL , et al. (2004) |
| 4 | Rett Syndrome | Delayed maturation of neuronal architecture and synaptogenesis in cerebral cortex of Mecp2-deficient mice. | Fukuda T , et al. (2005) |
| 5 | Rett Syndrome | Mecp2 deficiency is associated with learning and cognitive deficits and altered gene activity in the hippocampal region of mice. | Pelka GJ , et al. (2006) |
| 6 | Rett Syndrome | Brain-derived neurotrophic factor expression and respiratory function improve after ampakine treatment in a mouse model of Rett syndrome. | Ogier M , et al. (2007) |
| 7 | - | Phosphorylation of MeCP2 at Serine 80 regulates its chromatin association and neurological function. | Tao J , et al. (2009) |
| 8 | - | Synaptic circuit abnormalities of motor-frontal layer 2/3 pyramidal neurons in an RNA interference model of methyl-CpG-binding protein 2 deficiency. | Wood L , et al. (2009) |
| 9 | Rett Syndrome | Progressive noradrenergic deficits in the locus coeruleus of Mecp2 deficient mice. | Roux JC , et al. (2009) |
| 10 | - | Loss of MeCP2 in aminergic neurons causes cell-autonomous defects in neurotransmitter synthesis and specific behavioral abnormalities. | Samaco RC , et al. (2009) |
| 11 | - | Synaptic circuit abnormalities of motor-frontal layer 2/3 pyramidal neurons in a mutant mouse model of Rett syndrome. | Wood L and Shepherd GM (2010) |
| 12 | Rett Syndrome, X-linked MR | Abnormalities of cell packing density and dendritic complexity in the MeCP2 A140V mouse model of Rett syndrome/X-linked mental retardation. | Jentarra GM , et al. (2010) |
| 13 | Rett Syndrome | Exogenous brain-derived neurotrophic factor rescues synaptic dysfunction in Mecp2-null mice. | Kline DD , et al. (2010) |
| 14 | - | Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes. | Chao HT , et al. (2010) |
| 15 | Rett Syndrome | Rett syndrome mutation MeCP2 T158A disrupts DNA binding, protein stability and ERP responses. | Goffin D , et al. (2011) |
| 16 | - | Modification of Mecp2 dosage alters axonal transport through the Huntingtin/Hap1 pathway. | Roux JC , et al. (2011) |
| 17 | - | Pharmacological interference with the glucocorticoid system influences symptoms and lifespan in a mouse model of Rett syndrome. | Braun S , et al. (2011) |
| 18 | - | 7,8-dihydroxyflavone exhibits therapeutic efficacy in a mouse model of Rett syndrome. | Johnson RA , et al. (2011) |
| 19 | ASD | Crh and Oprm1 mediate anxiety-related behavior and social approach in a mouse model of MECP2 duplication syndrome. | Samaco RC , et al. (2012) |
| 20 | - | Crh and Oprm1 mediate anxiety-related behavior and social approach in a mouse model of MECP2 duplication syndrome. | Samaco RC , et al. (2012) |
| 21 | - | MeCP2 mouse model of RTT reproduces auditory phenotypes associated with Rett syndrome and replicate select EEG endophenotypes of autism spectrum... | Liao W , et al. (2012) |
| 22 | - | Long-lived epigenetic interactions between perinatal PBDE exposure and Mecp2308 mutation. | Woods R , et al. (2012) |
| 23 | - | A mouse model for MeCP2 duplication syndrome: MeCP2 overexpression impairs learning and memory and synaptic transmission. | Na ES , et al. (2012) |
| 24 | - | Female Mecp2() mice display robust behavioral deficits on two different genetic backgrounds providing a framework for pre-clinical studies. | Samaco RC , et al. (2012) |
| 25 | - | Acetyl-L-carnitine improves behavior and dendritic morphology in a mouse model of Rett syndrome. | Schaevitz LR , et al. (2012) |
| 26 | Rett syndrome, ASD, juvenile-onset schizophrenia | Sensory integration in mouse insular cortex reflects GABA circuit maturation. | Gogolla N , et al. (2014) |
| 27 | ASD | Loss of MeCP2 in Parvalbumin-and Somatostatin-Expressing Neurons in Mice Leads to Distinct Rett Syndrome-like Phenotypes. | Ito-Ishida A , et al. (2015) |
| 28 | ASD | Reversal of phenotypes in MECP2 duplication mice using genetic rescue or antisense oligonucleotides. | Sztainberg Y , et al. (2015) |
| 29 | ASD | Peripheral Mechanosensory Neuron Dysfunction Underlies Tactile and Behavioral Deficits in Mouse Models of ASDs. | Orefice LL , et al. (2016) |
| 30 | Rett Syndrome | Peripheral Mechanosensory Neuron Dysfunction Underlies Tactile and Behavioral Deficits in Mouse Models of ASDs. | Orefice LL , et al. (2016) |
| 31 | Rett Syndrome | D-cycloserine improves synaptic transmission in an animal mode of Rett syndrome. | Na ES , et al. (2017) |
| 32 | Rett syndrome | Radically truncated MeCP2 rescues Rett syndrome-like neurological defects. | Tillotson R , et al. (2017) |
| 33 | Additional | Striatal Inhibition of MeCP2 or TSC1 Produces Sociability Deficits and Repetitive Behaviors. | Lee Y , et al. (2019) |
| 34 | Additional | Targeting Peripheral Somatosensory Neurons to Improve Tactile-Related Phenotypes in ASD Models. | Orefice LL , et al. (2019) |
| 35 | Additional | Locus-specific DNA Methylation of Mecp2 Promoter Leads to Autism-Like Phenotypes in Mice </title> | () |
| 36 | Additional | Presymptomatic training mitigates functional deficits in a mouse model of Rett syndrome | Achilly NP et al. (2021) |
| 37 | Additional | Inhibition of Elevated Ras-MAPK Signaling Normalizes Enhanced Motor Learning and Excessive Clustered Dendritic Spine Stabilization in the MECP2-Duplication Syndrome Mouse Model of Autism | Ash RT et al. (2021) |
| 38 | Additional | - | et al. () |
Show all Construct Details
Show all Phenotypic Profiles
M_MECP2_1.2_CKO_HE
Model Type: Genetic
Model Genotype: Homozygous
Mutation:
Conditional deletion of exon 3 which encodes most of the methyl-CpG-binding domain of the Mecp2 gene , using TH-cre, in dopaminergic and noradrenergic neurons of the substantia nigra/ventral tegmental area, locus ceruleus, medullary regions as well as in the peripheral nervous system and the adrenal medulla starting around E14.5 and expressed through adulthood in some regions, in male mice
Allele Type: Conditional loss-of-function
Strain of Origin: FVB/N
Genetic Background: Not Specified
Es cell line: Not Specified
Model Source: Not Specified
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Samaco RC , et al. (2009) |
| Motor phenotype | Motor coordination and balance | No change | Accelerating rotarod test | 13 weeks | Samaco RC , et al. (2009) |
| Motor phenotype | Motor coordination and balance | Decreased | Dowel walk test | 16 weeks | Samaco RC , et al. (2009) |
| Motor phenotype | General locomotor activity | Decreased | Open field test | 15 weeks | Samaco RC , et al. (2009) |
| Neuroanatomy / ultrastructure / cytoarchitecture | NA | Not reported | NA | NA | Samaco RC , et al. (2009) |
| Neurophysiology | Neurotransmitter release | Decreased | High-performance liquid chromatography (hplc) | 5 months | Samaco RC , et al. (2009) |
| Repetitive behavior | NA | Not reported | NA | NA | Samaco RC , et al. (2009) |
| Seizure | NA | Not reported | NA | NA | Samaco RC , et al. (2009) |
| Sensory | NA | Not reported | NA | NA | Samaco RC , et al. (2009) |
| Social behavior | Social interaction | No change | Partition test | 5 months | Samaco RC , et al. (2009) |
| Physiological parameters | Respiratory function | Abnormal | Whole body plethysmography | 16 weeks | Samaco RC , et al. (2009) |
| Physiological parameters | NA | Not reported | NA | NA | Samaco RC , et al. (2009) |
| Communications | NA | Not reported | NA | NA | Samaco RC , et al. (2009) |
| Developmental profile | NA | Not reported | NA | NA | Samaco RC , et al. (2009) |
| Emotion | Anxiety | No change | Light-dark exploration test | 12-14 weeks | Samaco RC , et al. (2009) |
| Immune response | NA | Not reported | NA | NA | Samaco RC , et al. (2009) |
| Learning & memory | Cued or contextual fear conditioning | No change | Fear conditioning test | 4.5 months | Samaco RC , et al. (2009) |
| Maternal behavior | NA | Not reported | NA | NA | Samaco RC , et al. (2009) |
| Molecular profile | Gene expression | Decreased | In situ hybridization (ish) | 16-20 weeks | Samaco RC , et al. (2009) |
M_MECP2_1.2_KO_HE
Model Type: Genetic
Model Genotype: Homozygous
Mutation:
Targeting construct deletion of exon 3, which encodes most of the methyl-CpG-binding domain using the cre-loxP recombination system.
Allele Type: Knockout
Strain of Origin: (C57BL/6 x 129S4/SvJae)F1
Genetic Background: 129Sv*C57BL/6*BALB/c
Es cell line: v6.5
Model Source: MMRRC
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Kline DD , et al. (2010) |
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Ogier M , et al. (2007) |
| Motor phenotype | NA | Not reported | NA | NA | Kline DD , et al. (2010) |
| Motor phenotype | NA | Not reported | NA | NA | Ogier M , et al. (2007) |
| Neuroanatomy / ultrastructure / cytoarchitecture | NA | Not reported | NA | NA | Kline DD , et al. (2010) |
| Neuroanatomy / ultrastructure / cytoarchitecture | NA | Not reported | NA | NA | Ogier M , et al. (2007) |
| Neurophysiology | Synaptic transmission: inhibitory | No change | Whole-cell patch clamp | 5-7 weeks | Kline DD , et al. (2010) |
| Neurophysiology | Synaptic transmission | Increased | Whole-cell patch clamp | 5-7 weeks | Kline DD , et al. (2010) |
| Neurophysiology | Miniature post synaptic current amplitude: excitatory | Abnormal | Whole-cell patch clamp | 5-7 weeks | Kline DD , et al. (2010) |
| Neurophysiology | Membrane potential | No change | Whole-cell patch clamp | 5-7 weeks | Kline DD , et al. (2010) |
| Neurophysiology | Intrinsic membrane properties | No change | Whole-cell patch clamp | 5-7 weeks | Kline DD , et al. (2010) |
| Neurophysiology | Action potential property: threshold | No change | Whole-cell patch clamp | 5-7 weeks | Kline DD , et al. (2010) |
| Neurophysiology | Action potential property: half-width | No change | Whole-cell patch clamp | 5-7 weeks | Kline DD , et al. (2010) |
| Neurophysiology | Action potential property: firing rate | No change | Whole-cell patch clamp | 5-7 weeks | Kline DD , et al. (2010) |
| Neurophysiology | Action potential property: firing rate | Increased | Whole-cell patch clamp | 5-7 weeks | Kline DD , et al. (2010) |
| Neurophysiology | Action potential property: amplitude | No change | Whole-cell patch clamp | 5-7 weeks | Kline DD , et al. (2010) |
| Neurophysiology | Action potential property: after hyperpolarization | No change | Whole-cell patch clamp | 5-7 weeks | Kline DD , et al. (2010) |
| Neurophysiology | NA | Not reported | NA | NA | Ogier M , et al. (2007) |
| Repetitive behavior | NA | Not reported | NA | NA | Kline DD , et al. (2010) |
| Repetitive behavior | NA | Not reported | NA | NA | Ogier M , et al. (2007) |
| Seizure | NA | Not reported | NA | NA | Kline DD , et al. (2010) |
| Seizure | NA | Not reported | NA | NA | Ogier M , et al. (2007) |
| Sensory | NA | Not reported | NA | NA | Kline DD , et al. (2010) |
| Sensory | NA | Not reported | NA | NA | Ogier M , et al. (2007) |
| Social behavior | NA | Not reported | NA | NA | Kline DD , et al. (2010) |
| Social behavior | NA | Not reported | NA | NA | Ogier M , et al. (2007) |
| Physiological parameters | NA | Not reported | NA | NA | Kline DD , et al. (2010) |
| Physiological parameters | Respiratory function | Increased | Whole body plethysmography | 5 weeks | Ogier M , et al. (2007) |
| Physiological parameters | Respiratory function | Abnormal | Whole body plethysmography | 5 weeks | Ogier M , et al. (2007) |
| Physiological parameters | NA | Not reported | NA | NA | Ogier M , et al. (2007) |
| Communications | NA | Not reported | NA | NA | Kline DD , et al. (2010) |
| Communications | NA | Not reported | NA | NA | Ogier M , et al. (2007) |
| Developmental profile | NA | Not reported | NA | NA | Kline DD , et al. (2010) |
| Developmental profile | NA | Not reported | NA | NA | Ogier M , et al. (2007) |
| Emotion | NA | Not reported | NA | NA | Kline DD , et al. (2010) |
| Emotion | NA | Not reported | NA | NA | Ogier M , et al. (2007) |
| Immune response | NA | Not reported | NA | NA | Kline DD , et al. (2010) |
| Immune response | NA | Not reported | NA | NA | Ogier M , et al. (2007) |
| Learning & memory | NA | Not reported | NA | NA | Kline DD , et al. (2010) |
| Learning & memory | NA | Not reported | NA | NA | Ogier M , et al. (2007) |
| Maternal behavior | NA | Not reported | NA | NA | Kline DD , et al. (2010) |
| Maternal behavior | NA | Not reported | NA | NA | Ogier M , et al. (2007) |
| Molecular profile | Protein expression level evidence | Decreased | Immunohistochemistry | 5 weeks | Kline DD , et al. (2010) |
| Molecular profile | Protein expression level evidence | Decreased | Elisa | 5 weeks | Ogier M , et al. (2007) |
| Molecular profile | Gene expression | Decreased | Quantitative pcr (qrt-pcr) | 5 weeks | Ogier M , et al. (2007) |
M_MECP2_1.2_KO_HE_AMPAKINE
Model Type: RESCUE-Pharmaceutical
Model Genotype: Homozygous
Mutation:
Starting at PND 25 WT and Mecp2 null mice (exon 3 of Mecp2 deleted) and littermate controls were acclimatized to handing for 10 min for 3 d, followed by saline injections for an additional 3 d (twice a day). Subsequently mice were assigned either to drug treatment )40 mg/kg CX546 in 16.5% 2- hydroxypropyl-B-cyclodextrin) i.p. or vehicle (cyclodextrin) b.i.b. Ampakines contain the benzoamide group and act as positive allosteric modulators of AMPA class of ionotropic glutamate receptors.
Allele Type: Knockout
Strain of Origin: (C57BL/6 x 129S4/SvJae)F1
Genetic Background: 129Sv*C57BL/6*BALB/c
Es cell line: v6.5
Model Source: -
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Ogier M , et al. (2007) |
| Motor phenotype | NA | Not reported | NA | NA | Ogier M , et al. (2007) |
| Neuroanatomy / ultrastructure / cytoarchitecture | NA | Not reported | NA | NA | Ogier M , et al. (2007) |
| Neurophysiology | NA | Not reported | NA | NA | Ogier M , et al. (2007) |
| Repetitive behavior | NA | Not reported | NA | NA | Ogier M , et al. (2007) |
| Seizure | NA | Not reported | NA | NA | Ogier M , et al. (2007) |
| Sensory | NA | Not reported | NA | NA | Ogier M , et al. (2007) |
| Social behavior | NA | Not reported | NA | NA | Ogier M , et al. (2007) |
| Physiological parameters | Respiratory function | Refractory | Whole body plethysmography | 5 weeks | Ogier M , et al. (2007) |
| Physiological parameters | Respiratory function | Restored | Whole body plethysmography | 5 weeks | Ogier M , et al. (2007) |
| Physiological parameters | NA | Not reported | NA | NA | Ogier M , et al. (2007) |
| Communications | NA | Not reported | NA | NA | Ogier M , et al. (2007) |
| Developmental profile | NA | Not reported | NA | NA | Ogier M , et al. (2007) |
| Emotion | NA | Not reported | NA | NA | Ogier M , et al. (2007) |
| Immune response | NA | Not reported | NA | NA | Ogier M , et al. (2007) |
| Learning & memory | NA | Not reported | NA | NA | Ogier M , et al. (2007) |
| Maternal behavior | NA | Not reported | NA | NA | Ogier M , et al. (2007) |
| Molecular profile | Protein expression level evidence | Ameliorated | Immunohistochemistry | Unreported | Ogier M , et al. (2007) |
M_MECP2_1.3_CKO_HE
Model Type: Genetic
Model Genotype: Homozygous
Mutation:
Conditional deletion of exon 3 which encodes most of the methyl-CpG-binding domain of the Mecp2 gene using PET1-cre, in serotonergic neurons starting E10 and persisting through adulthood, in male mice
Allele Type: Conditional loss-of-function
Strain of Origin: C56BL/6J
Genetic Background: Not Specified
Es cell line: Not Specified
Model Source: Not Specified
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Samaco RC , et al. (2009) |
| Motor phenotype | Self grooming: artificial stress evoked | No change | Splash test to evoke grooming behavior | 7 months | Samaco RC , et al. (2009) |
| Motor phenotype | Motor coordination and balance | No change | Dowel walk test | 16 weeks | Samaco RC , et al. (2009) |
| Motor phenotype | Motor coordination and balance | No change | Accelerating rotarod test | 13 weeks | Samaco RC , et al. (2009) |
| Motor phenotype | General locomotor activity | No change | Open field test | Unreported | Samaco RC , et al. (2009) |
| Neuroanatomy / ultrastructure / cytoarchitecture | NA | Not reported | NA | NA | Samaco RC , et al. (2009) |
| Neurophysiology | Neurotransmitter release: serotonin | Decreased | High-performance liquid chromatography (hplc) | 5 months | Samaco RC , et al. (2009) |
| Repetitive behavior | Repetitive digging | No change | Marble-burying test | 8 weeks | Samaco RC , et al. (2009) |
| Seizure | NA | Not reported | NA | NA | Samaco RC , et al. (2009) |
| Sensory | NA | Not reported | NA | NA | Samaco RC , et al. (2009) |
| Social behavior | Aggression | Increased | Resident-intruder test | 5 months | Samaco RC , et al. (2009) |
| Physiological parameters | Respiratory function | Abnormal | Whole body plethysmography | 6.5 months | Samaco RC , et al. (2009) |
| Physiological parameters | NA | Not reported | NA | NA | Samaco RC , et al. (2009) |
| Communications | NA | Not reported | NA | NA | Samaco RC , et al. (2009) |
| Developmental profile | NA | Not reported | NA | NA | Samaco RC , et al. (2009) |
| Emotion | Anxiety | No change | Light-dark exploration test | 12-14 weeks | Samaco RC , et al. (2009) |
| Immune response | NA | Not reported | NA | NA | Samaco RC , et al. (2009) |
| Learning & memory | NA | Not reported | NA | NA | Samaco RC , et al. (2009) |
| Maternal behavior | NA | Not reported | NA | NA | Samaco RC , et al. (2009) |
| Molecular profile | Gene expression | Decreased | In situ hybridization (ish) | 3.5-4.5 months | Samaco RC , et al. (2009) |
M_MECP2_1.3_KO_HE
Model Type: Genetic
Model Genotype: Hemizygous
Mutation:
Targeting construct deletion of exon 3, which encodes most of the methyl-CpG-binding domain using the cre-loxP recombination system (Mecp2tm1.1Jae/y mice).
Allele Type: Knockout
Strain of Origin: 129/Sv
Genetic Background: C57Bl/6J
Es cell line: -
Model Source: Jaenisch laboratory, MIT (PMID 11242118)
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Na ES , et al. (2017) |
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Schaevitz LR , et al. (2012) |
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Johnson RA , et al. (2011) |
| Motor phenotype | Tremor | No change | Tremor activity measurements | 4 months | Na ES , et al. (2017) |
| Motor phenotype | Grip strength | No change | Grip strength test | 4 months | Na ES , et al. (2017) |
| Motor phenotype | General locomotor activity: ambulatory activity | Decreased | Open field test | 4 months | Na ES , et al. (2017) |
| Motor phenotype | Gait | Decreased | Gait | 4 months | Na ES , et al. (2017) |
| Motor phenotype | Clasping reflex | No change | General observations | 4 months | Na ES , et al. (2017) |
| Motor phenotype | Motor coordination and balance | Decreased | Accelerating rotarod test | 6 weeks | Schaevitz LR , et al. (2012) |
| Motor phenotype | Grip strength | Decreased | Grip strength test | 3, 4, 6 weeks | Schaevitz LR , et al. (2012) |
| Motor phenotype | General locomotor activity | Decreased | Light-dark exploration test | 3, 4, 6 weeks | Schaevitz LR , et al. (2012) |
| Motor phenotype | General locomotor activity | Decreased | Running wheel test | 8 weeks | Johnson RA , et al. (2011) |
| Neuroanatomy / ultrastructure / cytoarchitecture | NA | Not reported | NA | NA | Na ES , et al. (2017) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Dendritic architecture: spine density | Abnormal | Sholl analysis | Unreported | Schaevitz LR , et al. (2012) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Brain cytoarchitecture | Decreased | Nuclear size measurement | 8-10 weeks | Johnson RA , et al. (2011) |
| Neurophysiology | Synaptic plasticity: cerebellar ltp | Decreased | Field potential recordings | 4 months | - |
| Neurophysiology | Epsp-spike relationship | No change | Field potential recordings | 4 months | - |
| Neurophysiology | Presynaptic function: paired-pulse facilitation | Decreased | Field potential recordings | 4 months | Na ES , et al. (2017) |
| Neurophysiology | Neurotransmitter release: neurotrophins | No change | Elisa | 4 months | Na ES , et al. (2017) |
| Neurophysiology | Neurotransmitter release: neurotrophins | No change | Western blot | 4 months | Na ES , et al. (2017) |
| Neurophysiology | Neurotransmitter release: neurotrophins | Decreased | Elisa | 4 months | Na ES , et al. (2017) |
| Neurophysiology | Neurotransmitter release: neurotrophins | Decreased | Western blot | 4 months | Na ES , et al. (2017) |
| Neurophysiology | Neurotransmitter release: neurotrophins | Increased | Immunohistochemistry | 6 weeks | Schaevitz LR , et al. (2012) |
| Neurophysiology | Neurotransmitter release: neurotrophins | Decreased | Immunohistochemistry | NA | Schaevitz LR , et al. (2012) |
| Neurophysiology | NA | Not reported | NA | NA | Johnson RA , et al. (2011) |
| Repetitive behavior | NA | Not reported | NA | NA | Na ES , et al. (2017) |
| Repetitive behavior | NA | Not reported | NA | NA | Schaevitz LR , et al. (2012) |
| Repetitive behavior | NA | Not reported | NA | NA | Johnson RA , et al. (2011) |
| Seizure | NA | Not reported | NA | NA | Na ES , et al. (2017) |
| Seizure | NA | Not reported | NA | NA | Schaevitz LR , et al. (2012) |
| Seizure | NA | Not reported | NA | NA | Johnson RA , et al. (2011) |
| Sensory | NA | Not reported | NA | NA | Na ES , et al. (2017) |
| Sensory | NA | Not reported | NA | NA | Schaevitz LR , et al. (2012) |
| Sensory | NA | Not reported | NA | NA | Johnson RA , et al. (2011) |
| Social behavior | NA | Not reported | NA | NA | Na ES , et al. (2017) |
| Social behavior | NA | Not reported | NA | NA | Schaevitz LR , et al. (2012) |
| Social behavior | NA | Not reported | NA | NA | Johnson RA , et al. (2011) |
| Physiological parameters | Respiratory function | Decreased | Whole body plethysmography | 4 months | Na ES , et al. (2017) |
| Physiological parameters | NA | Not reported | NA | NA | Na ES , et al. (2017) |
| Physiological parameters | NA | Not reported | NA | NA | Schaevitz LR , et al. (2012) |
| Physiological parameters | Metabolic function | No change | Measurement of gas exchange | 3, 4 weeks | Schaevitz LR , et al. (2012) |
| Physiological parameters | Metabolic function | Decreased | Measurement of gas exchange | 6 weeks | Schaevitz LR , et al. (2012) |
| Physiological parameters | Respiratory function | Increased | Whole body plethysmography | 6 weeks | Johnson RA , et al. (2011) |
| Physiological parameters | Respiratory function | Abnormal | Whole body plethysmography | 6 weeks | Johnson RA , et al. (2011) |
| Physiological parameters | NA | Not reported | NA | NA | Johnson RA , et al. (2011) |
| Communications | NA | Not reported | NA | NA | Na ES , et al. (2017) |
| Communications | NA | Not reported | NA | NA | Schaevitz LR , et al. (2012) |
| Communications | NA | Not reported | NA | NA | Johnson RA , et al. (2011) |
| Developmental profile | Size/growth | No change | Body weight measurement | 1-4 months | Na ES , et al. (2017) |
| Developmental profile | Mortality/lethality | Increased | General observations | 4 months | Na ES , et al. (2017) |
| Developmental profile | General characteristics | No change | General observations | 4 months | Na ES , et al. (2017) |
| Developmental profile | Size/growth | Decreased | General observations | 3 weeks | Schaevitz LR , et al. (2012) |
| Developmental profile | Size/growth | Decreased | General observations | 4-8 weeks | Johnson RA , et al. (2011) |
| Developmental profile | Mortality/lethality | Increased | General observations | 7.5 days | Johnson RA , et al. (2011) |
| Developmental profile | Mortality/lethality | Increased | General observations | Unreported | Johnson RA , et al. (2011) |
| Emotion | NA | Not reported | NA | NA | Na ES , et al. (2017) |
| Emotion | NA | Not reported | NA | NA | Schaevitz LR , et al. (2012) |
| Emotion | NA | Not reported | NA | NA | Johnson RA , et al. (2011) |
| Immune response | NA | Not reported | NA | NA | Na ES , et al. (2017) |
| Immune response | NA | Not reported | NA | NA | Schaevitz LR , et al. (2012) |
| Immune response | NA | Not reported | NA | NA | Johnson RA , et al. (2011) |
| Learning & memory | NA | Not reported | NA | NA | Na ES , et al. (2017) |
| Learning & memory | Object recognition memory | No change | Novel object recognition test | 4 weeks | Schaevitz LR , et al. (2012) |
| Learning & memory | Object recognition memory | Decreased | Novel object recognition test | 4 weeks | Schaevitz LR , et al. (2012) |
| Learning & memory | Cued or contextual fear conditioning | Abnormal | Fear conditioning test | 6 weeks | Schaevitz LR , et al. (2012) |
| Learning & memory | NA | Not reported | NA | NA | Johnson RA , et al. (2011) |
| Maternal behavior | NA | Not reported | NA | NA | Na ES , et al. (2017) |
| Maternal behavior | NA | Not reported | NA | NA | Schaevitz LR , et al. (2012) |
| Maternal behavior | NA | Not reported | NA | NA | Johnson RA , et al. (2011) |
| Molecular profile | NA | Not reported | NA | NA | Na ES , et al. (2017) |
| Molecular profile | NA | Not reported | NA | NA | Schaevitz LR , et al. (2012) |
| Molecular profile | NA | Not reported | NA | NA | Johnson RA , et al. (2011) |
M_MECP2_1.3_KO_HE_ALC
Model Type: RESCUE-Pharmaceutical
Model Genotype: Hemizygous
Mutation:
Mecp2 hemizygous mice were administered a dose of 100 mg/kg of acetyl-L-carnitine via subcutaneous injection.
Allele Type: Knockout
Strain of Origin: Not specified
Genetic Background: C57BL/6
Es cell line: Not specified
Model Source: Not Specified
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Schaevitz LR , et al. (2012) |
| Motor phenotype | Motor coordination and balance | Refractory | Accelerating rotarod test | 6 weeks | Schaevitz LR , et al. (2012) |
| Motor phenotype | Grip strength | Ameliorated | Grip strength test | 3, 4, 6 weeks | Schaevitz LR , et al. (2012) |
| Motor phenotype | Grip strength | Ameliorated | Grip strength test | 6 weeks | Schaevitz LR , et al. (2012) |
| Motor phenotype | General locomotor activity | Ameliorated | Light-dark exploration test | 3, 4, 6 weeks | Schaevitz LR , et al. (2012) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Dendritic architecture: spine density | Restored | Sholl analysis | 6.5 weeks | Schaevitz LR , et al. (2012) |
| Neurophysiology | Neurotransmitter release: neurotrophins | Refractory | Immunohistochemistry | 6 weeks | Schaevitz LR , et al. (2012) |
| Repetitive behavior | NA | Not reported | NA | NA | Schaevitz LR , et al. (2012) |
| Seizure | NA | Not reported | NA | NA | Schaevitz LR , et al. (2012) |
| Sensory | NA | Not reported | NA | NA | Schaevitz LR , et al. (2012) |
| Social behavior | NA | Not reported | NA | NA | Schaevitz LR , et al. (2012) |
| Physiological parameters | NA | Not reported | NA | NA | Schaevitz LR , et al. (2012) |
| Physiological parameters | Metabolic function | Restored | Measurement of gas exchange | 3, 4, 6 weeks | Schaevitz LR , et al. (2012) |
| Physiological parameters | Bioactive compound levels: carnitine | Side effect | High-performance liquid chromatography (hplc) | 6.5 weeks | Schaevitz LR , et al. (2012) |
| Communications | NA | Not reported | NA | NA | Schaevitz LR , et al. (2012) |
| Developmental profile | Size/growth | Ameliorated | General observations | 3-5 weeks | Schaevitz LR , et al. (2012) |
| Emotion | NA | Not reported | NA | NA | Schaevitz LR , et al. (2012) |
| Immune response | NA | Not reported | NA | NA | Schaevitz LR , et al. (2012) |
| Learning & memory | Object recognition memory | Ameliorated | Novel object recognition test | 4 weeks | Schaevitz LR , et al. (2012) |
| Learning & memory | Cued or contextual fear conditioning | Refractory | Fear conditioning test | 6 weeks | Schaevitz LR , et al. (2012) |
| Maternal behavior | NA | Not reported | NA | NA | Schaevitz LR , et al. (2012) |
M_MECP2_1.3_KO_HE_CYCLOSERINE
Model Type: RESCUE-Pharmaceutical
Model Genotype: Hemizygous
Mutation:
MECP2 homozygous knockout mice were injected intraperitonealy with D-cycloserine (DCS) at 20 mg/kg/day every day beginning at 3 weeks of age and continuing until death.
Allele Type: Knockout
Strain of Origin: 129/Sv
Genetic Background: C57Bl/6J
Es cell line: -
Model Source: Jaenisch laboratory, MIT (PMID 11242118)
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Na ES , et al. (2017) |
| Motor phenotype | Tremor | No adverse effect | Tremor activity measurements | 4 months | Na ES , et al. (2017) |
| Motor phenotype | Grip strength | No adverse effect | Grip strength test | 4 months | Na ES , et al. (2017) |
| Motor phenotype | General locomotor activity: ambulatory activity | Ameliorated | Open field test | 4 months | Na ES , et al. (2017) |
| Motor phenotype | Gait | No adverse effect | Gait | 4 months | Na ES , et al. (2017) |
| Motor phenotype | Clasping reflex | No adverse effect | General observations | 4 months | Na ES , et al. (2017) |
| Neuroanatomy / ultrastructure / cytoarchitecture | NA | Not reported | NA | NA | Na ES , et al. (2017) |
| Neurophysiology | Synaptic plasticity: cerebellar ltp | Refractory | Field potential recordings | 4 months | Na ES , et al. (2017) |
| Neurophysiology | Presynaptic function: paired-pulse facilitation | Ameliorated | Field potential recordings | 4 months | Na ES , et al. (2017) |
| Neurophysiology | Neurotransmitter release: neurotrophins | Ameliorated | Elisa | 4 months | Na ES , et al. (2017) |
| Neurophysiology | Neurotransmitter release: neurotrophins | Ameliorated | Western blot | 4 months | Na ES , et al. (2017) |
| Neurophysiology | Neurotransmitter release: neurotrophins | Refractory | Elisa | 4 months | Na ES , et al. (2017) |
| Neurophysiology | Neurotransmitter release: neurotrophins | Refractory | Western blot | 4 months | Na ES , et al. (2017) |
| Neurophysiology | Neurotransmitter release: neurotrophins | No adverse effect | Elisa | 4 months | Na ES , et al. (2017) |
| Neurophysiology | Neurotransmitter release: neurotrophins | No adverse effect | Western blot | 4 months | Na ES , et al. (2017) |
| Repetitive behavior | NA | Not reported | NA | NA | Na ES , et al. (2017) |
| Seizure | NA | Not reported | NA | NA | Na ES , et al. (2017) |
| Sensory | NA | Not reported | NA | NA | Na ES , et al. (2017) |
| Social behavior | NA | Not reported | NA | NA | Na ES , et al. (2017) |
| Physiological parameters | Respiratory function | Ameliorated | Whole body plethysmography | 4 months | Na ES , et al. (2017) |
| Physiological parameters | NA | Not reported | NA | NA | Na ES , et al. (2017) |
| Communications | NA | Not reported | NA | NA | Na ES , et al. (2017) |
| Developmental profile | Size/growth | No adverse effect | Body weight measurement | 1-4 months | Na ES , et al. (2017) |
| Developmental profile | Mortality/lethality | Ameliorated | General observations | 4 months | Na ES , et al. (2017) |
| Developmental profile | General characteristics | No adverse effect | General observations | 4 months | Na ES , et al. (2017) |
| Emotion | NA | Not reported | NA | NA | Na ES , et al. (2017) |
| Immune response | NA | Not reported | NA | NA | Na ES , et al. (2017) |
| Learning & memory | NA | Not reported | NA | NA | Na ES , et al. (2017) |
| Maternal behavior | NA | Not reported | NA | NA | Na ES , et al. (2017) |
| Molecular profile | NA | Not reported | NA | NA | Na ES , et al. (2017) |
M_MECP2_1.3_KO_HE_DHF
Model Type: RESCUE-Pharmaceutical
Model Genotype: Homozygous
Mutation:
Mecp2 knockout mice were administered 80 mg/L of 7,8-Dihydroxyflavone (DHF) in drinking water from 4 weeks of age. 7,8- DHF activates the high affinity BDNF receptor (TrkB) in the CNS.
Allele Type: Knockout
Strain of Origin: Not Specified
Genetic Background: C57BL/6
Es cell line: Not Specified
Model Source: Not Specified
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Johnson RA , et al. (2011) |
| Motor phenotype | General locomotor activity | Ameliorated | Running wheel test | 8 weeks | Johnson RA , et al. (2011) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Brain cytoarchitecture | Restored | Nuclear size measurement | 8-10 weeks | Johnson RA , et al. (2011) |
| Neurophysiology | NA | Not reported | NA | NA | Johnson RA , et al. (2011) |
| Repetitive behavior | NA | Not reported | NA | NA | Johnson RA , et al. (2011) |
| Seizure | NA | Not reported | NA | NA | Johnson RA , et al. (2011) |
| Sensory | NA | Not reported | NA | NA | Johnson RA , et al. (2011) |
| Social behavior | NA | Not reported | NA | NA | Johnson RA , et al. (2011) |
| Physiological parameters | Respiratory function | Restored | Whole body plethysmography | 6 weeks | Johnson RA , et al. (2011) |
| Physiological parameters | Respiratory function | Ameliorated | Whole body plethysmography | 6 weeks | Johnson RA , et al. (2011) |
| Physiological parameters | NA | Not reported | NA | NA | Johnson RA , et al. (2011) |
| Communications | NA | Not reported | NA | NA | Johnson RA , et al. (2011) |
| Developmental profile | Size/growth | Ameliorated | General observations | 4-8 weeks | Johnson RA , et al. (2011) |
| Developmental profile | Mortality/lethality | Ameliorated | General observations | 0-5 months | Johnson RA , et al. (2011) |
| Emotion | NA | Not reported | NA | NA | Johnson RA , et al. (2011) |
| Immune response | NA | Not reported | NA | NA | Johnson RA , et al. (2011) |
| Learning & memory | NA | Not reported | NA | NA | Johnson RA , et al. (2011) |
| Maternal behavior | NA | Not reported | NA | NA | Johnson RA , et al. (2011) |
| Molecular profile | NA | Not reported | NA | NA | Johnson RA , et al. (2011) |
M_MECP2_1.3_KO_HT
Model Type: Genetic
Model Genotype: Heterozygous
Mutation:
Targeting construct deletion of exon 3, which encodes most of the methyl-CpG-binding domain using the cre-loxP recombination system.
Allele Type: Knockout
Strain of Origin: Not specified
Genetic Background: C57BL/6
Es cell line: Not specified
Model Source: Not Specified
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Schaevitz LR , et al. (2012) |
| Motor phenotype | Motor coordination and balance | Decreased | Accelerating rotarod test | 6 weeks | Schaevitz LR , et al. (2012) |
| Motor phenotype | Grip strength | No change | Grip strength test | 6.5 weeks | Schaevitz LR , et al. (2012) |
| Motor phenotype | General locomotor activity | No change | Light-dark exploration test | Unreported | Schaevitz LR , et al. (2012) |
| Neuroanatomy / ultrastructure / cytoarchitecture | NA | Not reported | NA | NA | Schaevitz LR , et al. (2012) |
| Neurophysiology | NA | Not reported | NA | NA | Schaevitz LR , et al. (2012) |
| Repetitive behavior | NA | Not reported | NA | NA | Schaevitz LR , et al. (2012) |
| Seizure | NA | Not reported | NA | NA | Schaevitz LR , et al. (2012) |
| Sensory | NA | Not reported | NA | NA | Schaevitz LR , et al. (2012) |
| Social behavior | NA | Not reported | NA | NA | Schaevitz LR , et al. (2012) |
| Physiological parameters | NA | Not reported | NA | NA | Schaevitz LR , et al. (2012) |
| Communications | NA | Not reported | NA | NA | Schaevitz LR , et al. (2012) |
| Developmental profile | Size/growth | No change | General observations | 6.5 weeks | Schaevitz LR , et al. (2012) |
| Emotion | NA | Not reported | NA | NA | Schaevitz LR , et al. (2012) |
| Immune response | NA | Not reported | NA | NA | Schaevitz LR , et al. (2012) |
| Learning & memory | Cued or contextual fear conditioning | No change | Fear conditioning test | 6 weeks | Schaevitz LR , et al. (2012) |
| Maternal behavior | NA | Not reported | NA | NA | Schaevitz LR , et al. (2012) |
| Molecular profile | NA | Not reported | NA | NA | Schaevitz LR , et al. (2012) |
M_MECP2_1.3_KO_HT_ALC
Model Type: RESCUE-Pharmaceutical
Model Genotype: Heterozygous
Mutation:
Mecp2 heterozygous (female) mice were administered a dose of dose of 100 mg/kg of acetyl-L-carnitine via subcutaneous injection.
Allele Type: Knockout
Strain of Origin: Not specified
Genetic Background: C57BL/6
Es cell line: Not specified
Model Source: Not Specified
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Schaevitz LR , et al. (2012) |
| Motor phenotype | Motor coordination and balance | Restored | Accelerating rotarod test | 6 weeks | Schaevitz LR , et al. (2012) |
| Motor phenotype | Grip strength | No adverse effect | Grip strength test | 3,4,6 weeks | Schaevitz LR , et al. (2012) |
| Motor phenotype | General locomotor activity | No adverse effect | Light-dark exploration test | 3,4,6 weeks | Schaevitz LR , et al. (2012) |
| Neuroanatomy / ultrastructure / cytoarchitecture | NA | Not reported | NA | NA | Schaevitz LR , et al. (2012) |
| Neurophysiology | NA | Not reported | NA | NA | Schaevitz LR , et al. (2012) |
| Repetitive behavior | NA | Not reported | NA | NA | Schaevitz LR , et al. (2012) |
| Seizure | NA | Not reported | NA | NA | Schaevitz LR , et al. (2012) |
| Sensory | NA | Not reported | NA | NA | Schaevitz LR , et al. (2012) |
| Social behavior | NA | Not reported | NA | NA | Schaevitz LR , et al. (2012) |
| Physiological parameters | NA | Not reported | NA | NA | Schaevitz LR , et al. (2012) |
| Communications | NA | Not reported | NA | NA | Schaevitz LR , et al. (2012) |
| Developmental profile | Size/growth | No adverse effect | General observations | Pn 0-47 | Schaevitz LR , et al. (2012) |
| Emotion | NA | Not reported | NA | NA | Schaevitz LR , et al. (2012) |
| Immune response | NA | Not reported | NA | NA | Schaevitz LR , et al. (2012) |
| Learning & memory | Cued or contextual fear conditioning | No adverse effect | Fear conditioning test | 0-6.5 weeks | Schaevitz LR , et al. (2012) |
| Maternal behavior | NA | Not reported | NA | NA | Schaevitz LR , et al. (2012) |
| Molecular profile | NA | Not reported | NA | NA | Schaevitz LR , et al. (2012) |
M_MECP2_1.4_CKO_HE
Model Type: Genetic
Model Genotype: Homozygous
Mutation:
Conditional deletion of exon 3, which encodes most of the methyl-CpG-binding domain of Mecp2 using the CamkII-cre, in excitatory neurons of the forebrain, in male mice
Allele Type: Conditional loss-of-function
Strain of Origin: 129/Sv
Genetic Background: Not Specified
Es cell line: 129/Sv, B6129F1
Model Source: Not Specified
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Chen RZ , et al. (2001) |
| Motor phenotype | NA | Not reported | NA | NA | Chen RZ , et al. (2001) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Brain size | Decreased | Pathology | Unreported | Chen RZ , et al. (2001) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Brain size | Decreased | Pathology | Unreported | Chen RZ , et al. (2001) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Brain anatomy | Abnormal | Histology | Unreported | Chen RZ , et al. (2001) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Brain anatomy | Decreased | Histology | Unreported | Chen RZ , et al. (2001) |
| Neurophysiology | NA | Not reported | NA | NA | Chen RZ , et al. (2001) |
| Repetitive behavior | NA | Not reported | NA | NA | Chen RZ , et al. (2001) |
| Seizure | NA | Not reported | NA | NA | Chen RZ , et al. (2001) |
| Sensory | NA | Not reported | NA | NA | Chen RZ , et al. (2001) |
| Social behavior | NA | Not reported | NA | NA | Chen RZ , et al. (2001) |
| Physiological parameters | NA | Not reported | NA | NA | Chen RZ , et al. (2001) |
| Communications | NA | Not reported | NA | NA | Chen RZ , et al. (2001) |
| Developmental profile | Size/growth | Increased | General observations | 3-6 months | Chen RZ , et al. (2001) |
| Developmental profile | Size/growth | Increased | General observations | 3-6 months | Chen RZ , et al. (2001) |
| Developmental profile | General characteristics | No change | General observations | 0-3 months | Chen RZ , et al. (2001) |
| Developmental profile | General characteristics | No change | General observations | 0-3 months | Chen RZ , et al. (2001) |
| Developmental profile | Developmental trajectory | Abnormal | General observations | >3 months | Chen RZ , et al. (2001) |
| Developmental profile | Developmental trajectory | Abnormal | General observations | >3 months | Chen RZ , et al. (2001) |
| Emotion | NA | Not reported | NA | NA | Chen RZ , et al. (2001) |
| Immune response | NA | Not reported | NA | NA | Chen RZ , et al. (2001) |
| Learning & memory | NA | Not reported | NA | NA | Chen RZ , et al. (2001) |
| Maternal behavior | NA | Not reported | NA | NA | Chen RZ , et al. (2001) |
| Molecular profile | NA | Not reported | NA | NA | Chen RZ , et al. (2001) |
M_MECP2_10_PME_HIPPOCAMPUS
Model Type: Genetic
Model Genotype: Wildtype
Mutation:
Mice with locus-specific methylation at the transcription start site of Mecp2 in the hippocampus were generated by injecting AAV-based methylation vectors (AAV-DNMT3A-N-dCas9, AAV-AAV-C-dCas9, AAV-5U6-sgRNAs-EGFP) bilaterally into the hippocampus of adult mice. Behavioral tests were performed 4 weeks after injection.
Allele Type: Loss of function
Strain of Origin: C57BL/6
Genetic Background: C57BL/6
Es cell line: Not Specified
Model Source: PMID 32015323
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | () |
| Motor phenotype | General locomotor activity: ambulatory activity | No change | Open field test | 3-18 weeks | () |
| Neuroanatomy / ultrastructure / cytoarchitecture | NA | Not reported | NA | NA | () |
| Neurophysiology | NA | Not reported | NA | NA | () |
| Repetitive behavior | Self grooming: perseveration | No change | Grooming behavior assessments | 3-18 weeks | () |
| Seizure | NA | Not reported | NA | NA | () |
| Sensory | NA | Not reported | NA | NA | () |
| Social behavior | Social transmission of food preference | Decreased | Social transmission of food preference | 3-18 weeks | () |
| Social behavior | Social memory | Decreased | Three-chamber social approach test | 3-18 weeks | () |
| Social behavior | Social approach | No change | Three-chamber social approach test | 3-18 weeks | () |
| Physiological parameters | NA | Not reported | NA | NA | () |
| Communications | NA | Not reported | NA | NA | () |
| Developmental profile | NA | Not reported | NA | NA | () |
| Emotion | Depression | No change | Tail suspension test | 3-18 weeks | () |
| Emotion | Anxiety | Increased | Elevated plus maze test | 3-18 weeks | () |
| Immune response | NA | Not reported | NA | NA | () |
| Learning & memory | Object recognition memory | Decreased | Novel object recognition test | 3-18 weeks | () |
| Maternal behavior | NA | Not reported | NA | NA | () |
| Molecular profile | NA | Not reported | NA | NA | () |
M_MECP2_11_KO_HE
Model Type: Genetic
Model Genotype: Hemizygous
Mutation:
Targeted deletion of the methyl-CpG-binding domain(MBD) coding region on exon 3 and first 170 bp of exon 4 and disruption of mRNA splicing in the Mecp2 gene.
Allele Type: Knockout
Strain of Origin: Not Specified
Genetic Background: 129 and 129xC57BL6
Es cell line: R1 129
Model Source: Not Specified
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Pelka GJ , et al. (2006) |
| Motor phenotype | Motor coordination and balance | Decreased | Accelerating rotarod test | Unreported | Pelka GJ , et al. (2006) |
| Motor phenotype | Motor coordination and balance | Decreased | Accelerating rotarod test | Unreported | Pelka GJ , et al. (2006) |
| Motor phenotype | General locomotor activity | Decreased | Running wheel test | Unreported | Pelka GJ , et al. (2006) |
| Neuroanatomy / ultrastructure / cytoarchitecture | NA | Not reported | NA | NA | Pelka GJ , et al. (2006) |
| Neurophysiology | NA | Not reported | NA | NA | Pelka GJ , et al. (2006) |
| Repetitive behavior | NA | Not reported | NA | NA | Pelka GJ , et al. (2006) |
| Seizure | NA | Not reported | NA | NA | Pelka GJ , et al. (2006) |
| Sensory | NA | Not reported | NA | NA | Pelka GJ , et al. (2006) |
| Social behavior | NA | Not reported | NA | NA | Pelka GJ , et al. (2006) |
| Physiological parameters | NA | Not reported | NA | NA | Pelka GJ , et al. (2006) |
| Communications | NA | Not reported | NA | NA | Pelka GJ , et al. (2006) |
| Developmental profile | NA | Not reported | NA | NA | Pelka GJ , et al. (2006) |
| Emotion | Anxiety | Decreased | Elevated plus maze test | Unreported | Pelka GJ , et al. (2006) |
| Immune response | NA | Not reported | NA | NA | Pelka GJ , et al. (2006) |
| Learning & memory | Cued or contextual fear conditioning | Decreased | Fear conditioning test | Unreported | Pelka GJ , et al. (2006) |
| Maternal behavior | NA | Not reported | NA | NA | Pelka GJ , et al. (2006) |
| Molecular profile | Transcriptome diversity | Abnormal | Quantitative pcr (qrt-pcr) | Unreported | Pelka GJ , et al. (2006) |
M_MECP2_14_KI_HE_A140V
Model Type: Genetic
Model Genotype: Hemizygous
Mutation:
Targeted point mutation at nucleotide position 601 from a C to T resulting in the A140V missense mutation of Mecp2.
Allele Type: NDD LOF
Strain of Origin: 129S1/X1
Genetic Background: Not Specified
Es cell line: R1
Model Source: Not Specified
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Jentarra GM , et al. (2010) |
| Motor phenotype | NA | Not reported | NA | NA | Jentarra GM , et al. (2010) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Dendritic architecture: spine density | Decreased | Sholl analysis | 2-3 months | Jentarra GM , et al. (2010) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Brain cytoarchitecture | Increased | Histology | 5 months | Jentarra GM , et al. (2010) |
| Neurophysiology | NA | Not reported | NA | NA | Jentarra GM , et al. (2010) |
| Repetitive behavior | NA | Not reported | NA | NA | Jentarra GM , et al. (2010) |
| Seizure | NA | Not reported | NA | NA | Jentarra GM , et al. (2010) |
| Sensory | NA | Not reported | NA | NA | Jentarra GM , et al. (2010) |
| Social behavior | NA | Not reported | NA | NA | Jentarra GM , et al. (2010) |
| Physiological parameters | NA | Not reported | NA | NA | Jentarra GM , et al. (2010) |
| Communications | NA | Not reported | NA | NA | Jentarra GM , et al. (2010) |
| Developmental profile | Size/growth | No change | General observations | 6-18 weeks | Jentarra GM , et al. (2010) |
| Developmental profile | Mortality/lethality | No change | General observations | 14 months | Jentarra GM , et al. (2010) |
| Developmental profile | General characteristics | No change | General observations | 14 months | Jentarra GM , et al. (2010) |
| Emotion | NA | Not reported | NA | NA | Jentarra GM , et al. (2010) |
| Immune response | NA | Not reported | NA | NA | Jentarra GM , et al. (2010) |
| Learning & memory | NA | Not reported | NA | NA | Jentarra GM , et al. (2010) |
| Maternal behavior | NA | Not reported | NA | NA | Jentarra GM , et al. (2010) |
| Molecular profile | Gene expression | No change | Quantitative pcr (qrt-pcr) | 6 months | Jentarra GM , et al. (2010) |
M_MECP2_14_KI_HT_A140V
Model Type: Genetic
Model Genotype: Heterozygous
Mutation:
Targeted point mutation at nucleotide position 601 from a C to T resulting in the A140V missense mutation of Mecp2.
Allele Type: NDD LOF
Strain of Origin: 129S1/X1
Genetic Background: Not Specified
Es cell line: R1
Model Source: Not Specified
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Jentarra GM , et al. (2010) |
| Motor phenotype | NA | Not reported | NA | NA | Jentarra GM , et al. (2010) |
| Neuroanatomy / ultrastructure / cytoarchitecture | NA | Not reported | NA | NA | Jentarra GM , et al. (2010) |
| Neurophysiology | NA | Not reported | NA | NA | Jentarra GM , et al. (2010) |
| Repetitive behavior | NA | Not reported | NA | NA | Jentarra GM , et al. (2010) |
| Seizure | NA | Not reported | NA | NA | Jentarra GM , et al. (2010) |
| Sensory | NA | Not reported | NA | NA | Jentarra GM , et al. (2010) |
| Social behavior | NA | Not reported | NA | NA | Jentarra GM , et al. (2010) |
| Physiological parameters | NA | Not reported | NA | NA | Jentarra GM , et al. (2010) |
| Communications | NA | Not reported | NA | NA | Jentarra GM , et al. (2010) |
| Developmental profile | Mortality/lethality | No change | General observations | 14 months | Jentarra GM , et al. (2010) |
| Developmental profile | General characteristics | No change | General observations | 6-18 weeks | Jentarra GM , et al. (2010) |
| Emotion | NA | Not reported | NA | NA | Jentarra GM , et al. (2010) |
| Immune response | NA | Not reported | NA | NA | Jentarra GM , et al. (2010) |
| Learning & memory | NA | Not reported | NA | NA | Jentarra GM , et al. (2010) |
| Maternal behavior | NA | Not reported | NA | NA | Jentarra GM , et al. (2010) |
| Molecular profile | NA | Not reported | NA | NA | Jentarra GM , et al. (2010) |
M_MECP2_1_CKO_HE
Model Type: Genetic
Model Genotype: Homozygous
Mutation:
Conditional deletion of exon 3 which encodes most of the methyl-CpG-binding domain of Mecp2 using Nestin-cre, in neuronal, glial and other cell types in the central and peripheral nervous system, in male mice
Allele Type: Conditional loss-of-function
Strain of Origin: 129/Sv
Genetic Background: Not Specified
Es cell line: 129/Sv, B6129F1
Model Source: Not Specified
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Chen RZ , et al. (2001) |
| Motor phenotype | NA | Not reported | NA | NA | Chen RZ , et al. (2001) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Brain size | Decreased | Measurement of tissue weight | Unreported | Chen RZ , et al. (2001) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Brain size | Decreased | Measurement of tissue weight | Unreported | Chen RZ , et al. (2001) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Brain cytoarchitecture | Decreased | Histology | Unreported | Chen RZ , et al. (2001) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Brain cytoarchitecture | Decreased | Histology | Unreported | Chen RZ , et al. (2001) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Brain anatomy | Decreased | Histology | Unreported | Chen RZ , et al. (2001) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Brain anatomy | Decreased | Histology | Unreported | Chen RZ , et al. (2001) |
| Neurophysiology | NA | Not reported | NA | NA | Chen RZ , et al. (2001) |
| Repetitive behavior | NA | Not reported | NA | NA | Chen RZ , et al. (2001) |
| Seizure | NA | Not reported | NA | NA | Chen RZ , et al. (2001) |
| Sensory | NA | Not reported | NA | NA | Chen RZ , et al. (2001) |
| Social behavior | NA | Not reported | NA | NA | Chen RZ , et al. (2001) |
| Physiological parameters | NA | Not reported | NA | NA | Chen RZ , et al. (2001) |
| Communications | NA | Not reported | NA | NA | Chen RZ , et al. (2001) |
| Developmental profile | Size/growth | Increased | General observations | 8 weeks | Chen RZ , et al. (2001) |
| Developmental profile | Size/growth | Increased | General observations | 8 weeks | Chen RZ , et al. (2001) |
| Developmental profile | Developmental trajectory | Abnormal | General observations | 5 weeks | Chen RZ , et al. (2001) |
| Developmental profile | Developmental trajectory | Abnormal | General observations | 5 weeks | Chen RZ , et al. (2001) |
| Emotion | NA | Not reported | NA | NA | Chen RZ , et al. (2001) |
| Immune response | NA | Not reported | NA | NA | Chen RZ , et al. (2001) |
| Learning & memory | NA | Not reported | NA | NA | Chen RZ , et al. (2001) |
| Maternal behavior | NA | Not reported | NA | NA | Chen RZ , et al. (2001) |
| Molecular profile | Protein expression level evidence | Decreased | Immunohistochemistry | Unreported | Chen RZ , et al. (2001) |
| Molecular profile | Protein expression level evidence | Decreased | Immunohistochemistry | Unreported | Chen RZ , et al. (2001) |
| Molecular profile | Protein expression level evidence | Decreased | Western blot | Unreported | Chen RZ , et al. (2001) |
| Molecular profile | Gene expression | Decreased | Northern blot | Unreported | Chen RZ , et al. (2001) |
| Molecular profile | Gene expression | Decreased | Northern blot | Unreported | Chen RZ , et al. (2001) |
M_MECP2_1_KO_HE
Model Type: Genetic
Model Genotype: Homozygous
Mutation:
Targeting construct deletion of exon 3, which encodes most of the methyl-CpG-binding domain using the cre-loxP recombination system.
Allele Type: Knockout
Strain of Origin: 129/Sv
Genetic Background: Not Specified
Es cell line: 129/Sv, B6129F1
Model Source: Not Specified
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Chen RZ , et al. (2001) |
| Motor phenotype | NA | Not reported | NA | NA | Chen RZ , et al. (2001) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Brain size | Decreased | Measurement of tissue weight | Unreported | Chen RZ , et al. (2001) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Brain size | Decreased | Pathology | Unreported | Chen RZ , et al. (2001) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Brain cytoarchitecture | Decreased | Cell contour analysis | Unreported | Chen RZ , et al. (2001) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Brain cytoarchitecture | Decreased | Cell contour analysis | Unreported | Chen RZ , et al. (2001) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Brain anatomy | Decreased | Histology | Unreported | Chen RZ , et al. (2001) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Brain anatomy | Decreased | Histology | Unreported | Chen RZ , et al. (2001) |
| Neurophysiology | NA | Not reported | NA | NA | Chen RZ , et al. (2001) |
| Repetitive behavior | NA | Not reported | NA | NA | Chen RZ , et al. (2001) |
| Seizure | NA | Not reported | NA | NA | Chen RZ , et al. (2001) |
| Sensory | NA | Not reported | NA | NA | Chen RZ , et al. (2001) |
| Social behavior | NA | Not reported | NA | NA | Chen RZ , et al. (2001) |
| Physiological parameters | NA | Not reported | NA | NA | Chen RZ , et al. (2001) |
| Communications | NA | Not reported | NA | NA | Chen RZ , et al. (2001) |
| Developmental profile | Size/growth | Increased | General observations | 8 weeks | Chen RZ , et al. (2001) |
| Developmental profile | Size/growth | Increased | General observations | 8 weeks | Chen RZ , et al. (2001) |
| Developmental profile | Developmental trajectory | Abnormal | General observations | 5 weeks | Chen RZ , et al. (2001) |
| Developmental profile | Developmental trajectory | Abnormal | General observations | 5 weeks | Chen RZ , et al. (2001) |
| Emotion | NA | Not reported | NA | NA | Chen RZ , et al. (2001) |
| Immune response | NA | Not reported | NA | NA | Chen RZ , et al. (2001) |
| Learning & memory | NA | Not reported | NA | NA | Chen RZ , et al. (2001) |
| Maternal behavior | NA | Not reported | NA | NA | Chen RZ , et al. (2001) |
| Molecular profile | Protein expression level evidence | Decreased | Immunohistochemistry | Unreported | Chen RZ , et al. (2001) |
| Molecular profile | Protein expression level evidence | Decreased | Immunohistochemistry | Unreported | Chen RZ , et al. (2001) |
| Molecular profile | Protein expression level evidence | Decreased | Western blot | Unreported | Chen RZ , et al. (2001) |
| Molecular profile | Gene expression | Decreased | Northern blot | Unreported | Chen RZ , et al. (2001) |
| Molecular profile | Gene expression | Decreased | Northern blot | Unreported | Chen RZ , et al. (2001) |
M_MECP2_20_KI_HE_T158A
Model Type: Genetic
Model Genotype: Hemizygous
Mutation:
Knock in of mutation of threonine at position 158 to alanine using QuickChange site-directed mutagenesis.
Allele Type: NDD knockin
Strain of Origin: Not Specified
Genetic Background: sv129:C57BL/6
Es cell line: sv129
Model Source: Not Specified
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Goffin D , et al. (2011) |
| Motor phenotype | Motor coordination and balance | Decreased | Accelerating rotarod test | Unreported | Goffin D , et al. (2011) |
| Motor phenotype | General locomotor activity | No change | Open field test | 3 weeks | Goffin D , et al. (2011) |
| Motor phenotype | General locomotor activity | Decreased | Open field test | 9, 11 weeks | Goffin D , et al. (2011) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Brain size | Decreased | Measurement of tissue weight | 4,13 weeks | Goffin D , et al. (2011) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Brain cytoarchitecture | Decreased | Confocal microscopy | 4,13 weeks | Goffin D , et al. (2011) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Brain anatomy | No change | Histology | Unreported | Goffin D , et al. (2011) |
| Neurophysiology | Event related potential (erp) in electroencephalography (eeg) | No change | Electroencephalogram (eeg) | 4 weeks | Goffin D , et al. (2011) |
| Neurophysiology | Event related potential (erp) in electroencephalography (eeg) | No change | Electroencephalogram (eeg) | 4 weeks | Goffin D , et al. (2011) |
| Neurophysiology | Event related potential (erp) in electroencephalography (eeg) | Increased | Electroencephalogram (eeg) | 3 months | Goffin D , et al. (2011) |
| Neurophysiology | Event related potential (erp) in electroencephalography (eeg) | Decreased | Electroencephalogram (eeg) | 4 weeks | Goffin D , et al. (2011) |
| Neurophysiology | Event related potential (erp) in electroencephalography (eeg) | Decreased | Electroencephalogram (eeg) | 13 weeks | Goffin D , et al. (2011) |
| Neurophysiology | Event related potential (erp) in electroencephalography (eeg) | Abnormal | Electroencephalogram (eeg) | 3 months | Goffin D , et al. (2011) |
| Repetitive behavior | NA | Not reported | NA | NA | Goffin D , et al. (2011) |
| Seizure | NA | Not reported | NA | NA | Goffin D , et al. (2011) |
| Sensory | Hearing | No change | Auditory brainstem response test | 1-3 months | Goffin D , et al. (2011) |
| Social behavior | NA | Not reported | NA | NA | Goffin D , et al. (2011) |
| Physiological parameters | NA | Not reported | NA | NA | Goffin D , et al. (2011) |
| Communications | NA | Not reported | NA | NA | Goffin D , et al. (2011) |
| Developmental profile | Size/growth | No change | General observations | 8 weeks | Goffin D , et al. (2011) |
| Developmental profile | Size/growth | Decreased | General observations | 4 weeks | Goffin D , et al. (2011) |
| Developmental profile | Mortality/lethality | Increased | General observations | 16 weeks | Goffin D , et al. (2011) |
| Developmental profile | General characteristics | No change | General observations | 4 weeks | Goffin D , et al. (2011) |
| Developmental profile | Developmental trajectory | Abnormal | General observations | 5 weeks | Goffin D , et al. (2011) |
| Emotion | Anxiety | Decreased | Elevated zero maze test | 9 weeks | Goffin D , et al. (2011) |
| Immune response | NA | Not reported | NA | NA | Goffin D , et al. (2011) |
| Learning & memory | Cued or contextual fear conditioning | Decreased | Fear conditioning test | 10 weeks | Goffin D , et al. (2011) |
| Maternal behavior | NA | Not reported | NA | NA | Goffin D , et al. (2011) |
| Molecular profile | Targeted expression | Decreased | Immunoprecipitation | Unreported | Goffin D , et al. (2011) |
| Molecular profile | Targeted expression | Decreased | Western blot | Unreported | Goffin D , et al. (2011) |
| Molecular profile | Targeted expression | Abnormal | Confocal microscopy | 1 month, 3 months | Goffin D , et al. (2011) |
| Molecular profile | Protein-dna complex assembly | Decreased | Quantitative pcr (qrt-pcr) | Unreported | Goffin D , et al. (2011) |
| Molecular profile | Protein-dna complex assembly | Decreased | Western blot | Unreported | Goffin D , et al. (2011) |
| Molecular profile | Protein expression level evidence | Decreased | Western blot | P2, 1, 3 months | Goffin D , et al. (2011) |
| Molecular profile | Gene expression | No change | Quantitative pcr (qrt-pcr) | P0, 1,3 months | Goffin D , et al. (2011) |
| Molecular profile | Gene expression | Decreased | Quantitative pcr (qrt-pcr) | Unreported | Goffin D , et al. (2011) |
M_MECP2_20_KI_HT_T158A
Model Type: Genetic
Model Genotype: Heterozygous
Mutation:
Knock in of mutation of threonine at position 158 to alanine using QuickChange site-directed mutagenesis.
Allele Type: LOF knockin
Strain of Origin: Not Specified
Genetic Background: sv129:C57BL/6
Es cell line: sv129
Model Source: Not Specified
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Goffin D , et al. (2011) |
| Motor phenotype | General locomotor activity | No change | Open field test | 12 weeks | Goffin D , et al. (2011) |
| Motor phenotype | General locomotor activity | Decreased | Open field test | 4.5 months | Goffin D , et al. (2011) |
| Neuroanatomy / ultrastructure / cytoarchitecture | NA | Not reported | NA | NA | Goffin D , et al. (2011) |
| Neurophysiology | NA | Not reported | NA | NA | Goffin D , et al. (2011) |
| Repetitive behavior | NA | Not reported | NA | NA | Goffin D , et al. (2011) |
| Seizure | NA | Not reported | NA | NA | Goffin D , et al. (2011) |
| Sensory | NA | Not reported | NA | NA | Goffin D , et al. (2011) |
| Social behavior | NA | Not reported | NA | NA | Goffin D , et al. (2011) |
| Physiological parameters | NA | Not reported | NA | NA | Goffin D , et al. (2011) |
| Communications | NA | Not reported | NA | NA | Goffin D , et al. (2011) |
| Developmental profile | Size/growth | Increased | General observations | 17 weeks | Goffin D , et al. (2011) |
| Developmental profile | Developmental trajectory | No change | General observations | 4 months | Goffin D , et al. (2011) |
| Emotion | NA | Not reported | NA | NA | Goffin D , et al. (2011) |
| Immune response | NA | Not reported | NA | NA | Goffin D , et al. (2011) |
| Learning & memory | NA | Not reported | NA | NA | Goffin D , et al. (2011) |
| Maternal behavior | NA | Not reported | NA | NA | Goffin D , et al. (2011) |
| Molecular profile | Targeted expression | Abnormal | Confocal microscopy | 1 month, 3 months | Goffin D , et al. (2011) |
| Molecular profile | Protein expression level evidence | Decreased | Western blot | 3 months | Goffin D , et al. (2011) |
M_MECP2_23_KI_HT_TRUNC(308)_BDE47
Model Type: Multifactorial
Model Genotype: Heterozygous
Mutation:
Gene targeting to introduce a premature stop codon after codon 308 to produce truncated MeCP2 protein followed by oral administration of 0.03 mg BDE-47/kg/day for 10 weeks from preconception to lactation.
Allele Type: LOF knockin
Strain of Origin: Not Specified
Genetic Background: C57BL/6
Es cell line: Not Specified
Model Source: Not Specified
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Woods R , et al. (2012) |
| Motor phenotype | General locomotor activity | No change | Open field test | NA | Woods R , et al. (2012) |
| Neuroanatomy / ultrastructure / cytoarchitecture | NA | Not reported | NA | NA | Woods R , et al. (2012) |
| Neurophysiology | NA | Not reported | NA | NA | Woods R , et al. (2012) |
| Repetitive behavior | NA | Not reported | NA | NA | Woods R , et al. (2012) |
| Seizure | NA | Not reported | NA | NA | Woods R , et al. (2012) |
| Sensory | NA | Not reported | NA | NA | Woods R , et al. (2012) |
| Social behavior | Social memory | No change | Three-chamber social approach test | 10 weeks | Woods R , et al. (2012) |
| Social behavior | Social approach | No change | Three-chamber social approach test | 5.5-10 weeks | Woods R , et al. (2012) |
| Physiological parameters | NA | Not reported | NA | NA | Woods R , et al. (2012) |
| Communications | Ultrasonic vocalization | No change | Monitoring ultrasonic vocalizations | P8-p16 | Woods R , et al. (2012) |
| Developmental profile | Size/growth | Decreased | General observations | P8-p18 | Woods R , et al. (2012) |
| Emotion | NA | Not reported | NA | NA | Woods R , et al. (2012) |
| Immune response | NA | Not reported | NA | NA | Woods R , et al. (2012) |
| Learning & memory | Spatial learning | Decreased | Morris water maze test | 7-12 weeks | Woods R , et al. (2012) |
| Maternal behavior | NA | Not reported | NA | NA | Woods R , et al. (2012) |
| Molecular profile | Gene expression | Increased | Quantitative pcr (qrt-pcr) | Unreported | Woods R , et al. (2012) |
| Molecular profile | Dna methylation | Decreased | Dot-blot analysis | Unreported | Woods R , et al. (2012) |
M_MECP2_26_OE_HE_NEURON-WB
Model Type: Genetic
Model Genotype: Homozygous
Mutation:
Targeted Mecp2 expression in postmitotic neurons by placing it under the control of microtubulue-binding protein Tau.
Allele Type: Overexpression
Strain of Origin: Not specified
Genetic Background: Not specified
Es cell line: Not specified
Model Source: Not specified
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Na ES , et al. (2012) |
| Motor phenotype | Motor coordination and balance | Decreased | Accelerating rotarod test | Unreported | Na ES , et al. (2012) |
| Motor phenotype | General locomotor activity | No change | Home cage behavior | Unreported | Na ES , et al. (2012) |
| Neuroanatomy / ultrastructure / cytoarchitecture | NA | Not reported | NA | NA | Na ES , et al. (2012) |
| Neurophysiology | Synaptic transmission | No change | Field potential recordings | 8-12 weeks | Na ES , et al. (2012) |
| Neurophysiology | Synaptic plasticity | Decreased | Field potential recordings | 8-12 weeks | Na ES , et al. (2012) |
| Neurophysiology | Presynaptic function: paired-pulse facilitation | Decreased | Field potential recordings | 8-12 weeks | Na ES , et al. (2012) |
| Repetitive behavior | NA | Not reported | NA | NA | Na ES , et al. (2012) |
| Seizure | NA | Not reported | NA | NA | Na ES , et al. (2012) |
| Sensory | NA | Not reported | NA | NA | Na ES , et al. (2012) |
| Social behavior | NA | Not reported | NA | NA | Na ES , et al. (2012) |
| Physiological parameters | NA | Not reported | NA | NA | Na ES , et al. (2012) |
| Communications | NA | Not reported | NA | NA | Na ES , et al. (2012) |
| Developmental profile | Size/growth | Decreased | General observations | Unreported | Na ES , et al. (2012) |
| Emotion | Anxiety | Increased | Light-dark exploration test | Unreported | Na ES , et al. (2012) |
| Emotion | Anxiety | Increased | Elevated plus maze test | Unreported | Na ES , et al. (2012) |
| Immune response | NA | Not reported | NA | NA | Na ES , et al. (2012) |
| Learning & memory | Object recognition memory | Decreased | Novel object recognition test | Unreported | Na ES , et al. (2012) |
| Learning & memory | Cued or contextual fear conditioning | Increased | Fear conditioning test | Unreported | Na ES , et al. (2012) |
| Learning & memory | Cognitive flexibility: associative learning | Decreased | Fear conditioning test | Unreported | Na ES , et al. (2012) |
| Maternal behavior | NA | Not reported | NA | NA | Na ES , et al. (2012) |
| Molecular profile | Protein expression level evidence | Increased | Immunohistochemistry | Unreported | Na ES , et al. (2012) |
| Molecular profile | Protein expression level evidence | Increased | Western blot | Unreported | Na ES , et al. (2012) |
M_MECP2_34.1_TG_2X
Model Type: Genetic
Model Genotype: Transgenic
Mutation:
Mouse strain carrying human MECP2 transgene on a hybrid background (FVB/N x C57Bl/6).
Allele Type: Transgenic
Strain of Origin: FVB/N
Genetic Background: FVB/N x129S6Sv/Ev
Es cell line: Not Specified
Model Source: MMRRC
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Motor phenotype | General locomotor activity | No change | Open field test | 8-9 weeks | Samaco RC , et al. (2012) |
| Neuroanatomy / ultrastructure / cytoarchitecture | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Neurophysiology | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Repetitive behavior | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Seizure | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Sensory | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Social behavior | Social memory | Decreased | Partition test | 12-13 weeks | Samaco RC , et al. (2012) |
| Social behavior | Social interaction | Decreased | Partition test | 12-13 weeks | Samaco RC , et al. (2012) |
| Social behavior | Social approach | Decreased | Three-chamber social approach test | 12 weeks | Samaco RC , et al. (2012) |
| Social behavior | Social approach | Decreased | Three-chamber social approach test | 7 weeks | Samaco RC , et al. (2012) |
| Physiological parameters | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Communications | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Developmental profile | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Emotion | Exploratory activity: habituation | No change | Three-chamber social approach test | 12 weeks | Samaco RC , et al. (2012) |
| Emotion | Anxiety | Increased | Light-dark exploration test | 9-10 weeks | Samaco RC , et al. (2012) |
| Emotion | Anxiety | Increased | Elevated plus maze test | 9-10 weeks | Samaco RC , et al. (2012) |
| Emotion | Anxiety | Increased | Light-dark exploration test | 7 weeks | Samaco RC , et al. (2012) |
| Emotion | Anxiety | Increased | Elevated plus maze test | 7 weeks | Samaco RC , et al. (2012) |
| Immune response | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Learning & memory | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Maternal behavior | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Molecular profile | Gene expression | Abnormal | Quantitative pcr (qrt-pcr) | 6 weeks | Samaco RC , et al. (2012) |
M_MECP2_34.1_TG_2X_ANTALARMIN
Model Type: RESCUE-Pharmaceutical
Model Genotype: Transgenic
Mutation:
Mecp2 transgenic mice, expressing approx 2 fold Mecp2 protein, F1 hybrid FVB/N x 129S6/SvEv, were treated with a single dose of either vehicle or 60 mg/kg antalarmin (antalarmin hydrochloride, N-butyl-N-ethyl-[2,5,6,-trimethyl-7-(2,4,6-trimethylphenyl)-7Hpyrrolo[2,3-d]pyrimidin4-yl]-amine, Sigma-Aldrich), via oral gavage, 30 minutes prior to testing in the open field, elevated plus maze or light dark box.
Allele Type: -
Strain of Origin: -
Genetic Background: FVB/N x 129S6/SvEv
Es cell line: -
Model Source: -
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Motor phenotype | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Neuroanatomy / ultrastructure / cytoarchitecture | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Neurophysiology | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Repetitive behavior | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Seizure | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Sensory | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Social behavior | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Physiological parameters | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Communications | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Developmental profile | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Emotion | Anxiety | Ameliorated | Post-stress elevated plus maze test | 2-3 month | Samaco RC , et al. (2012) |
| Emotion | Anxiety | Ameliorated | Light-dark exploration test | 2-3 month | Samaco RC , et al. (2012) |
| Emotion | Anxiety | Ameliorated | Elevated plus maze test | 2-3 month | Samaco RC , et al. (2012) |
| Immune response | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Learning & memory | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Maternal behavior | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Molecular profile | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
M_MECP2_34.1_TG_2X_CRHKO
Model Type: RESCUE-Genetic
Model Genotype: Transgenic
Mutation:
Mecp2 transgenic mice, expressing approx 2 fold Mecp2 protein, on a pure FVB/N background were bred to Crh+/- mice on 129S6/SvEv background to generate F1 (FVB/N*129S6/SvEv) hybrids to check phenotypes resulting from reduction in corticotropin-releasing hormone. The strain background as the other F1 hybrids tested (FVB/N*129S6Sv/Ev).
Allele Type: -
Strain of Origin: -
Genetic Background: FVB/N x 129S6/SvEv
Es cell line: -
Model Source: -
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Motor phenotype | General locomotor activity | No adverse effect | Open field test | 4-5 months | Samaco RC , et al. (2012) |
| Neuroanatomy / ultrastructure / cytoarchitecture | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Neurophysiology | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Repetitive behavior | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Seizure | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Sensory | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Social behavior | Social memory | Refractory | Partition test | 4-5 months | Samaco RC , et al. (2012) |
| Social behavior | Social interaction | Refractory | Partition test | 4-5 months | Samaco RC , et al. (2012) |
| Physiological parameters | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Physiological parameters | Hormone levels | Restored | Restraint-stress induced corticosterone levels | 4-5 months | Samaco RC , et al. (2012) |
| Communications | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Developmental profile | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Emotion | Anxiety | Restored | Light-dark exploration test | 4-5 months | Samaco RC , et al. (2012) |
| Emotion | Anxiety | Restored | Elevated plus maze test | 4-5 months | Samaco RC , et al. (2012) |
| Immune response | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Learning & memory | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Maternal behavior | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Molecular profile | Gene expression | No adverse effect | Quantitative pcr (qrt-pcr) | 4-5 months | Samaco RC , et al. (2012) |
M_MECP2_34.1_TG_2X_CRHR1KO
Model Type: RESCUE-Genetic
Model Genotype: Transgenic
Mutation:
Mecp2 transgenic mice, expressing approx 2 fold Mecp2 protein, on a pure FVB/N background were bred to Crhr1 +/- mice on 129S6/SvEv background to generate F1 (FVB/N*129S6/SvEv) hybrids to check phenotypes resulting from reduction in corticotropin-releasing hormone receptor expression. The strain background as the other F1 hybrids tested (FVB/N*129S6Sv/Ev).
Allele Type: -
Strain of Origin: -
Genetic Background: FVB/N x 129S6/SvEv
Es cell line: -
Model Source: -
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Motor phenotype | General locomotor activity | No adverse effect | Open field test | 4-5 months | Samaco RC , et al. (2012) |
| Neuroanatomy / ultrastructure / cytoarchitecture | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Neurophysiology | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Repetitive behavior | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Seizure | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Sensory | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Social behavior | Social memory | Refractory | Partition test | 2-3 month | Samaco RC , et al. (2012) |
| Social behavior | Social interaction | Refractory | Partition test | 4-5 months | Samaco RC , et al. (2012) |
| Physiological parameters | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Communications | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Developmental profile | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Emotion | Anxiety | Ameliorated | Light-dark exploration test | 4-5 months | Samaco RC , et al. (2012) |
| Emotion | Anxiety | Ameliorated | Elevated plus maze test | 4-5 months | Samaco RC , et al. (2012) |
| Immune response | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Learning & memory | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Maternal behavior | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Molecular profile | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
M_MECP2_34.2_TG_2X
Model Type: Genetic
Model Genotype: Transgenic
Mutation:
Mouse strain carrying human MECP2 transgene on a hybrid background (FVB/N x C57Bl/6).
Allele Type: Transgenic
Strain of Origin: FVB/N
Genetic Background: (FVB/N*C57Bl/6)
Es cell line: Not Specified
Model Source: PMID 22231481
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Motor phenotype | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Motor phenotype | General locomotor activity | No change | Open field test | 8-9 weeks | Samaco RC , et al. (2012) |
| Neuroanatomy / ultrastructure / cytoarchitecture | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Neurophysiology | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Repetitive behavior | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Seizure | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Sensory | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Social behavior | Social memory | Decreased | Partition test | 12-13 weeks | Samaco RC , et al. (2012) |
| Social behavior | Social interaction | Decreased | Partition test | 12-13 weeks | Samaco RC , et al. (2012) |
| Social behavior | Social approach | Decreased | Three-chamber social approach test | 12 weeks | Samaco RC , et al. (2012) |
| Social behavior | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Physiological parameters | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Physiological parameters | Hormone levels | Increased | Restraint-stress induced corticosterone levels | 4-5 months | Samaco RC , et al. (2012) |
| Communications | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Developmental profile | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Emotion | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Emotion | Exploratory activity: habituation | No change | Three-chamber social approach test | 12 weeks | Samaco RC , et al. (2012) |
| Emotion | Anxiety | Increased | Light-dark exploration test | 9-10 weeks | Samaco RC , et al. (2012) |
| Emotion | Anxiety | Increased | Elevated plus maze test | 9-10 weeks | Samaco RC , et al. (2012) |
| Immune response | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Learning & memory | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Maternal behavior | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Molecular profile | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
M_MECP2_34.2_TG_2X_OPRM1KO
Model Type: RESCUE-Genetic
Model Genotype: Transgenic
Mutation:
Mecp2 transgenic mice, expressing approx 2 fold Mecp2 protein, on a pure FVB/N background were bred to male Oprm1 +/- mice on C57BL/6 background to generate F1 (FVB/N*C57Bl/6) hybrids to check phenotypes resulting from reduction in corticotropin-releasing hormone receptor expression. The strain background as the other F1 hybrids tested (FVB/N*C57Bl/6).
Allele Type: -
Strain of Origin: -
Genetic Background: (FVB/N*C57Bl/6)
Es cell line: -
Model Source: -
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Motor phenotype | General locomotor activity | No adverse effect | Open field test | 2-3 month | Samaco RC , et al. (2012) |
| Neuroanatomy / ultrastructure / cytoarchitecture | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Neurophysiology | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Repetitive behavior | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Seizure | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Sensory | Olfaction | No adverse effect | Olfactory discrimination test | 2-3 month | Samaco RC , et al. (2012) |
| Social behavior | Social memory | Restored | Partition test | 2-3 month | Samaco RC , et al. (2012) |
| Social behavior | Social interaction | Restored | Partition test | 2-3 month | Samaco RC , et al. (2012) |
| Social behavior | Social approach | Restored | Three-chamber social approach test | 2-3 month | Samaco RC , et al. (2012) |
| Physiological parameters | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Communications | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Developmental profile | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Emotion | Exploratory activity: habituation | No adverse effect | Three-chamber social approach test | 2-3 month | Samaco RC , et al. (2012) |
| Emotion | Anxiety | Refractory | Light-dark exploration test | 2-3 month | Samaco RC , et al. (2012) |
| Emotion | Anxiety | Refractory | Elevated plus maze test | 2-3 month | Samaco RC , et al. (2012) |
| Immune response | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Learning & memory | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Maternal behavior | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Molecular profile | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
M_MECP2_34_TG_2X
Model Type: Genetic
Model Genotype: Transgenic
Mutation:
Mouse strain carrying human MECP2 transgene on an inbred FVB/N background; MECP2-TG mice harbor a ~99 kb P1 artificial chromosome (PAC 671D9) containing only the human MECP2 genomic locus;.
Allele Type: Transgenic
Strain of Origin: FVB/N
Genetic Background: FVB/N
Es cell line: FVB
Model Source: Zoghbi laboratory
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Collins AL , et al. (2004) |
| Motor phenotype | Motor coordination and balance | Abnormal | Dowel walk test | 6 weeks | Collins AL , et al. (2004) |
| Motor phenotype | Motor coordination and balance | No change | Accelerating rotarod test | 6 weeks | Collins AL , et al. (2004) |
| Motor phenotype | Motor coordination and balance | Increased | Accelerating rotarod test | 10 weeks, 20 weeks | Collins AL , et al. (2004) |
| Motor phenotype | General locomotor activity | No change | Open field test | 6-20 weeks | Collins AL , et al. (2004) |
| Motor phenotype | Clasping reflex | Increased | Tail suspension test | 12-15 weeks | Collins AL , et al. (2004) |
| Neuroanatomy / ultrastructure / cytoarchitecture | NA | Not reported | NA | NA | Collins AL , et al. (2004) |
| Neurophysiology | Synaptic transmission | No change | Fepsp slope vs fiber volley amplitude | NA | Collins AL , et al. (2004) |
| Neurophysiology | Synaptic plasticity: hippocampal ltp | Increased | High-frequency stimulation (hfs) | NA | Collins AL , et al. (2004) |
| Neurophysiology | Presynaptic function: paired-pulse facilitation | Increased | Whole-cell patch clamp | NA | Collins AL , et al. (2004) |
| Neurophysiology | Electroencephalogram (eeg) signature | Abnormal | Electroencephalogram (eeg) | 20 weeks | Collins AL , et al. (2004) |
| Repetitive behavior | NA | Not reported | NA | NA | Collins AL , et al. (2004) |
| Seizure | Seizures | Increased | General observations | 12-15 weeks, 20 weeks, 50 weeks | Collins AL , et al. (2004) |
| Seizure | Electroencephalogram (eeg): signature of seizure/epilepsy | Abnormal | Electroencephalogram (eeg) | 50 weeks | Collins AL , et al. (2004) |
| Sensory | Vision | Decreased | Ophthalmological evaluation | Adult | Collins AL , et al. (2004) |
| Social behavior | NA | Not reported | NA | NA | Collins AL , et al. (2004) |
| Physiological parameters | Reproductive function | Decreased | General observations | 12-15 weeks | Collins AL , et al. (2004) |
| Physiological parameters | NA | Not reported | NA | NA | Collins AL , et al. (2004) |
| Communications | NA | Not reported | NA | NA | Collins AL , et al. (2004) |
| Developmental profile | Skeletal development | Decreased | General observations | 12-15 weeks | Collins AL , et al. (2004) |
| Developmental profile | Mortality/lethality | Increased | General observations | 18 weeks | Collins AL , et al. (2004) |
| Emotion | Anxiety | No change | Light-dark exploration test | Adult | Collins AL , et al. (2004) |
| Emotion | Anxiety | No change | Open field test | Adult | Collins AL , et al. (2004) |
| Immune response | NA | Not reported | NA | NA | Collins AL , et al. (2004) |
| Learning & memory | Cued or contextual fear conditioning: memory of cue | No change | Fear conditioning test | 20 weeks | Collins AL , et al. (2004) |
| Learning & memory | Cued or contextual fear conditioning: memory of context | Increased | Fear conditioning test | 20 weeks | Collins AL , et al. (2004) |
| Maternal behavior | NA | Not reported | NA | NA | Collins AL , et al. (2004) |
| Molecular profile | Targeted expression | Increased | Western blot | NA | Collins AL , et al. (2004) |
M_MECP2_36.1_TG_7X
Model Type: Genetic
Model Genotype: Transgenic
Mutation:
Mouse strain carrying human MECP2 transgene on a hybrid background (FVB/N x 129S6/SvEv), the trangene expression is approximately 7 fold of endogenous levels assessed in the original article they were generated ( same construct is indicated as greater than 3 fold Mecp2 protein in PMID 22231481) .
Allele Type: Transgenic
Strain of Origin: FVB/N
Genetic Background: FVB/N x 129S6/SvEv
Es cell line: Not Specified
Model Source: PMID 22231481
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Motor phenotype | General locomotor activity | Decreased | Open field test | 8-9 weeks | Samaco RC , et al. (2012) |
| Neuroanatomy / ultrastructure / cytoarchitecture | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Neurophysiology | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Repetitive behavior | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Seizure | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Sensory | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Social behavior | Social memory | Decreased | Partition test | 12-13 weeks | Samaco RC , et al. (2012) |
| Social behavior | Social interaction | Decreased | Partition test | 12-13 weeks | Samaco RC , et al. (2012) |
| Social behavior | Social approach | Decreased | Three-chamber social approach test | 12 weeks | Samaco RC , et al. (2012) |
| Physiological parameters | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Communications | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Developmental profile | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Emotion | Exploratory activity: habituation | No change | Three-chamber social approach test | 12 weeks | Samaco RC , et al. (2012) |
| Emotion | Anxiety | Increased | Light-dark exploration test | 9-10 weeks | Samaco RC , et al. (2012) |
| Emotion | Anxiety | Increased | Elevated plus maze test | 9-10 weeks | Samaco RC , et al. (2012) |
| Immune response | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Learning & memory | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Maternal behavior | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Molecular profile | Gene expression | Increased | Quantitative pcr (qrt-pcr) | 6 weeks | Samaco RC , et al. (2012) |
| Molecular profile | Gene expression | Increased | Quantitative pcr (qrt-pcr) | 6 weeks | Samaco RC , et al. (2012) |
| Molecular profile | Gene expression | Increased | Quantitative pcr (qrt-pcr) | 6 weeks | Samaco RC , et al. (2012) |
| Molecular profile | Gene expression | Increased | Quantitative pcr (qrt-pcr) | 6 weeks | Samaco RC , et al. (2012) |
| Molecular profile | Gene expression | Increased | Quantitative pcr (qrt-pcr) | 6 weeks | Samaco RC , et al. (2012) |
| Molecular profile | Gene expression | Increased | Quantitative pcr (qrt-pcr) | 6 weeks | Samaco RC , et al. (2012) |
| Molecular profile | Gene expression | Increased | Quantitative pcr (qrt-pcr) | 6 weeks | Samaco RC , et al. (2012) |
| Molecular profile | Gene expression | Increased | Quantitative pcr (qrt-pcr) | 6 weeks | Samaco RC , et al. (2012) |
| Molecular profile | Gene expression | Increased | Quantitative pcr (qrt-pcr) | 6 weeks | Samaco RC , et al. (2012) |
M_MECP2_36.1_TG_7X_ASO
Model Type: RESCUE-Genetic
Model Genotype: Transgenic
Mutation:
F1 hybrid animals generated by mating FVB/N MECP2-TG1 females and wild-type 129S6/SvEv male mice (Taconic Farms) were treated with antisense oligonucleotide 5 (ASO5) designed to anneal at the intron between exons 2 and 3 of the human MECP2 pre-mRNA; gradually infused ASO into the brains of 78-week-old mice using micro-osmotic pumps designed to deliver the molecule at a constant rate over a 4-week period; ASOs designed to bind several regions of the human MECP2 precursor mRNA (pre-mRNA) so as to reduce the levels of both alternatively spliced MECP2 isoforms, MECP2-e1 and MECP2-e2;.
Allele Type: Conditional knockout
Strain of Origin: FVB/N
Genetic Background: FVB/N x 129S6/SvEv
Es cell line: Not Specified
Model Source: Taconic Farms
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Sztainberg Y , et al. (2015) |
| Motor phenotype | Motor coordination and balance | Restored | Accelerating rotarod test | Adult | Sztainberg Y , et al. (2015) |
| Neuroanatomy / ultrastructure / cytoarchitecture | NA | Not reported | NA | NA | Sztainberg Y , et al. (2015) |
| Neurophysiology | NA | Not reported | NA | NA | Sztainberg Y , et al. (2015) |
| Repetitive behavior | NA | Not reported | NA | NA | Sztainberg Y , et al. (2015) |
| Seizure | NA | Not reported | NA | NA | Sztainberg Y , et al. (2015) |
| Sensory | NA | Not reported | NA | NA | Sztainberg Y , et al. (2015) |
| Social behavior | Social approach | Restored | Three-chamber social approach test | Adult | Sztainberg Y , et al. (2015) |
| Physiological parameters | NA | Not reported | NA | NA | Sztainberg Y , et al. (2015) |
| Communications | NA | Not reported | NA | NA | Sztainberg Y , et al. (2015) |
| Developmental profile | NA | Not reported | NA | NA | Sztainberg Y , et al. (2015) |
| Emotion | Exploratory activity | Restored | Open field test | Adult | Sztainberg Y , et al. (2015) |
| Emotion | Anxiety | Restored | Elevated plus maze test | Adult | Sztainberg Y , et al. (2015) |
| Immune response | NA | Not reported | NA | NA | Sztainberg Y , et al. (2015) |
| Learning & memory | NA | Not reported | NA | NA | Sztainberg Y , et al. (2015) |
| Maternal behavior | NA | Not reported | NA | NA | Sztainberg Y , et al. (2015) |
| Molecular profile | Targeted expression | Restored | Immunohistochemistry | 14 weeks | Sztainberg Y , et al. (2015) |
| Molecular profile | Targeted expression | Restored | Western blot | 14 weeks | Sztainberg Y , et al. (2015) |
| Molecular profile | Gene expression | Refractory | Quantitative pcr (qrt-pcr) | 6 weeks | Sztainberg Y , et al. (2015) |
| Molecular profile | Gene expression | Refractory | Quantitative pcr (qrt-pcr) | 6 weeks | Sztainberg Y , et al. (2015) |
| Molecular profile | Gene expression | Ameliorated | Quantitative pcr (qrt-pcr) | 6 weeks | Sztainberg Y , et al. (2015) |
| Molecular profile | Gene expression | Ameliorated | Quantitative pcr (qrt-pcr) | 6 weeks | Sztainberg Y , et al. (2015) |
M_MECP2_36.2_TG_7X
Model Type: Genetic
Model Genotype: Transgenic
Mutation:
Mouse strain carrying human MECP2 transgene on a hybrid background (C57Bl/6 * 129S6/SvEv), the trangene expression is approximately 7 fold of endogenous levels of endogenous levels assessed in the original article they were generated ( same construct is indicated as greater than 3 fold Mecp2 protein in PMID 22231481) .
Allele Type: Transgenic
Strain of Origin: FVB/N
Genetic Background: C57Bl/6 x 129S6/SvEv
Es cell line: Not Specified
Model Source: PMID 22231481
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Motor phenotype | General locomotor activity | Decreased | Open field test | 8-9 weeks | Samaco RC , et al. (2012) |
| Neuroanatomy / ultrastructure / cytoarchitecture | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Neurophysiology | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Repetitive behavior | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Seizure | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Sensory | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Social behavior | Social memory | Decreased | Partition test | 12-13 weeks | Samaco RC , et al. (2012) |
| Social behavior | Social interaction | Decreased | Partition test | 12-13 weeks | Samaco RC , et al. (2012) |
| Social behavior | Social approach | Decreased | Three-chamber social approach test | 12 weeks | Samaco RC , et al. (2012) |
| Physiological parameters | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Communications | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Developmental profile | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Emotion | Exploratory activity: habituation | No change | Three-chamber social approach test | 12 weeks | Samaco RC , et al. (2012) |
| Emotion | Anxiety | Increased | Light-dark exploration test | 9-10 weeks | Samaco RC , et al. (2012) |
| Emotion | Anxiety | Increased | Elevated plus maze test | 9-10 weeks | Samaco RC , et al. (2012) |
| Immune response | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Learning & memory | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Maternal behavior | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Molecular profile | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
M_MECP2_36_TG_7X
Model Type: Genetic
Model Genotype: Transgenic
Mutation:
Mouse strain carrying human MECP2 transgene on a pure background (FVB/N , the trangene expression is approximately 7 fold of endogenous levels.
Allele Type: Transgenic
Strain of Origin: -
Genetic Background: FVB/N
Es cell line: Not Specified
Model Source: Taconic Farms
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Collins AL , et al. (2004) |
| Motor phenotype | Clasping reflex | Increased | Tail suspension test | 3 weeks | Collins AL , et al. (2004) |
| Neuroanatomy / ultrastructure / cytoarchitecture | NA | Not reported | NA | NA | Collins AL , et al. (2004) |
| Neurophysiology | NA | Not reported | NA | NA | Collins AL , et al. (2004) |
| Repetitive behavior | NA | Not reported | NA | NA | Collins AL , et al. (2004) |
| Seizure | Seizures | Increased | General observations | NA | Collins AL , et al. (2004) |
| Sensory | NA | Not reported | NA | NA | Collins AL , et al. (2004) |
| Social behavior | NA | Not reported | NA | NA | Collins AL , et al. (2004) |
| Physiological parameters | Reproductive function | Decreased | General observations | 3 weeks | Collins AL , et al. (2004) |
| Physiological parameters | NA | Not reported | NA | NA | Collins AL , et al. (2004) |
| Communications | NA | Not reported | NA | NA | Collins AL , et al. (2004) |
| Developmental profile | Skeletal development | Decreased | General observations | NA | Collins AL , et al. (2004) |
| Developmental profile | Size/growth | Decreased | General observations | 3 weeks | Collins AL , et al. (2004) |
| Developmental profile | Mortality/lethality | Increased | General observations | 3 weeks | Collins AL , et al. (2004) |
| Emotion | NA | Not reported | NA | NA | Collins AL , et al. (2004) |
| Immune response | NA | Not reported | NA | NA | Collins AL , et al. (2004) |
| Learning & memory | NA | Not reported | NA | NA | Collins AL , et al. (2004) |
| Maternal behavior | NA | Not reported | NA | NA | Collins AL , et al. (2004) |
| Molecular profile | NA | Not reported | NA | NA | Collins AL , et al. (2004) |
M_MECP2_39_KI_HE_R306C
Model Type: Genetic
Model Genotype: Hemizygous
Mutation:
The point mutation R306C found in 5% of Rhett syndrome patients, was introduced in a Mecp2-EGFP targeting vector containing exon3 and part of exon4 followed by a loxP flanked neoSTOP cassette as a selectable marker; linearized vector was electroporated into 129/OlaE14 TG2a ES cells and chimeric mice generated by standard procedures. The loxP flanked neo cassette was removed by crossing to pCAGGS-cre mice, In the article by Orefice et al it is unclear if the EGFP tagged or tag-removed Mecp2 R306C mice were used.
Allele Type: LOF knockin
Strain of Origin: 129 Ola
Genetic Background: C57BL/6
Es cell line: 129/Ola E14 TG2a
Model Source: PMID 23770565
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Orefice LL , et al. (2016) |
| Motor phenotype | General locomotor activity | Decreased | Open field test | 6-8 weeks | Orefice LL , et al. (2016) |
| Neuroanatomy / ultrastructure / cytoarchitecture | NA | Not reported | NA | NA | Orefice LL , et al. (2016) |
| Neurophysiology | NA | Not reported | NA | NA | Orefice LL , et al. (2016) |
| Repetitive behavior | NA | Not reported | NA | NA | Orefice LL , et al. (2016) |
| Seizure | NA | Not reported | NA | NA | Orefice LL , et al. (2016) |
| Sensory | Touch | Increased | Response to air puff | 6-8 weeks | Orefice LL , et al. (2016) |
| Sensory | Tactile memory | Decreased | Textured novel object recognition test (t-nort) | 6-8 weeks | Orefice LL , et al. (2016) |
| Sensory | Startle response: acoustic stimulus | Decreased | Startle response test | 6-8 weeks | Orefice LL , et al. (2016) |
| Sensory | Sensorimotor gating: tactile cue | Decreased | Prepulse inhibition | 6-8 weeks | Orefice LL , et al. (2016) |
| Sensory | Sensorimotor gating | Decreased | Prepulse inhibition | 6-8 weeks | Orefice LL , et al. (2016) |
| Social behavior | Social dominance | Decreased | Tube test of social dominance | 6-8 weeks | Orefice LL , et al. (2016) |
| Social behavior | Nest building behavior | Decreased | Nest building assay | 6-8 weeks | Orefice LL , et al. (2016) |
| Physiological parameters | NA | Not reported | NA | NA | Orefice LL , et al. (2016) |
| Communications | NA | Not reported | NA | NA | Orefice LL , et al. (2016) |
| Developmental profile | Mortality/lethality | Increased | Survival analysis | 1-10 months | Orefice LL , et al. (2016) |
| Emotion | Habituation to aversive stimuli | Decreased | Startle response test | 6-8 weeks | Orefice LL , et al. (2016) |
| Emotion | Exploratory activity | No change | Textured novel object recognition test (t-nort) | 6-8 weeks | Orefice LL , et al. (2016) |
| Emotion | Anxiety | Increased | Open field test | 6-8 weeks | Orefice LL , et al. (2016) |
| Emotion | Anxiety | Increased | Elevated plus maze test | 6-8 weeks | Orefice LL , et al. (2016) |
| Immune response | NA | Not reported | NA | NA | Orefice LL , et al. (2016) |
| Learning & memory | Object recognition memory: long-term recall | Decreased | Novel object recognition test | 6-8 weeks | Orefice LL , et al. (2016) |
| Learning & memory | Object recognition memory | No change | Novel object recognition test | 6-8 weeks | Orefice LL , et al. (2016) |
| Maternal behavior | NA | Not reported | NA | NA | Orefice LL , et al. (2016) |
| Molecular profile | NA | Not reported | NA | NA | Orefice LL , et al. (2016) |
M_MECP2_40_KI_HE_STOP
Model Type: Genetic
Model Genotype: Hemizygous
Mutation:
Mecp2 STOP mice allow for reversible inactivation of the Mecp2 gene, these were generated by using a targeting vector with a 3.1 kb DNA fragment containing a loxP -flanked neoSTOP cassette composed of 550 bp of 3' seq S cerevisiae HIs3 gene, SV40 poly A sequence and a synthetic sequence containing a false translation initiation codon and a consensus splice donor sequence. These mice have no detectable protein detectable by western blot.
Allele Type: LOF knockin
Strain of Origin: -
Genetic Background: 129/SvEv * C57BL/6J
Es cell line: -
Model Source: -
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Orefice LL , et al. (2016) |
| Motor phenotype | Motor coordination and balance | Decreased | Accelerating rotarod test | 6-8 weeks | Orefice LL , et al. (2016) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Synaptic neuroreceptors | Decreased | Immunohistochemistry | 3-6 months | Orefice LL , et al. (2016) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Brain size | Decreased | Histology | 3-6 months | Orefice LL , et al. (2016) |
| Neurophysiology | Dorsal root potential (drp) | Decreased | Whole-cell patch clamp | P14-p19 | Orefice LL , et al. (2016) |
| Repetitive behavior | NA | Not reported | NA | NA | Orefice LL , et al. (2016) |
| Seizure | NA | Not reported | NA | NA | Orefice LL , et al. (2016) |
| Sensory | Touch | Increased | Response to air puff | 6-8 weeks | Orefice LL , et al. (2016) |
| Sensory | Tactile memory | Decreased | Textured novel object recognition test (t-nort) | 6-8 weeks | Orefice LL , et al. (2016) |
| Sensory | Startle response: acoustic stimulus | Decreased | Startle response test | 6-8 weeks | Orefice LL , et al. (2016) |
| Sensory | Sensorimotor gating: tactile cue | Decreased | Prepulse inhibition | 6-8 weeks | Orefice LL , et al. (2016) |
| Sensory | Sensorimotor gating | Decreased | Prepulse inhibition | 6-8 weeks | Orefice LL , et al. (2016) |
| Social behavior | Social memory | Decreased | Three-chamber social approach test | 6-8 weeks | Orefice LL , et al. (2016) |
| Social behavior | Social dominance | Decreased | Tube test of social dominance | 6-8 weeks | Orefice LL , et al. (2016) |
| Social behavior | Social approach | Decreased | Three-chamber social approach test | 6-8 weeks | Orefice LL , et al. (2016) |
| Social behavior | Nest building behavior | Decreased | Nest building assay | 6-8 weeks | Orefice LL , et al. (2016) |
| Physiological parameters | NA | Not reported | NA | NA | Orefice LL , et al. (2016) |
| Communications | NA | Not reported | NA | NA | Orefice LL , et al. (2016) |
| Developmental profile | NA | Not reported | NA | NA | Orefice LL , et al. (2016) |
| Emotion | Habituation to aversive stimuli | Decreased | Startle response test | 6-8 weeks | Orefice LL , et al. (2016) |
| Emotion | Exploratory activity | No change | Textured novel object recognition test (t-nort) | 6-8 weeks | Orefice LL , et al. (2016) |
| Emotion | Anxiety | Increased | Open field test | 6-8 weeks | Orefice LL , et al. (2016) |
| Emotion | Anxiety | Increased | Elevated plus maze test | 6-8 weeks | Orefice LL , et al. (2016) |
| Immune response | NA | Not reported | NA | NA | Orefice LL , et al. (2016) |
| Learning & memory | Object recognition memory: long-term recall | Decreased | Novel object recognition test | 6-8 weeks | Orefice LL , et al. (2016) |
| Learning & memory | Object recognition memory | No change | Novel object recognition test | 6-8 weeks | Orefice LL , et al. (2016) |
| Maternal behavior | NA | Not reported | NA | NA | Orefice LL , et al. (2016) |
| Molecular profile | NA | Not reported | NA | NA | Orefice LL , et al. (2016) |
M_MECP2_40_KI_HE_STOP_REINSTATE-MECP2
Model Type: RESCUE-Genetic
Model Genotype: Hemizygous
Mutation:
Mecp2 STOP/y mouse line was crossed to Advillin (Avl) Cre mice to allow exclusive expression of Mecp2 in somatosensory neurons in a Mecp2 null background.
Allele Type: LOF knockin
Strain of Origin: -
Genetic Background: 129/SvEv * C57BL/6J
Es cell line: -
Model Source: -
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Orefice LL , et al. (2016) |
| Motor phenotype | Motor coordination and balance | Refractory | Accelerating rotarod test | 6-8 weeks | Orefice LL , et al. (2016) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Synaptic neuroreceptors | Restored | Immunohistochemistry | 3-6 months | Orefice LL , et al. (2016) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Brain size | Refractory | Histology | 3-6 months | Orefice LL , et al. (2016) |
| Neurophysiology | Dorsal root potential (drp) | Restored | Whole-cell patch clamp | P14-p19 | Orefice LL , et al. (2016) |
| Repetitive behavior | NA | Not reported | NA | NA | Orefice LL , et al. (2016) |
| Seizure | NA | Not reported | NA | NA | Orefice LL , et al. (2016) |
| Sensory | Tactile memory | Restored | Textured novel object recognition test (t-nort) | 6-8 weeks | Orefice LL , et al. (2016) |
| Sensory | Startle response: acoustic stimulus | Refractory | Startle response test | 6-8 weeks | Orefice LL , et al. (2016) |
| Sensory | Sensorimotor gating: tactile cue | Restored | Prepulse inhibition | 6-8 weeks | Orefice LL , et al. (2016) |
| Sensory | Sensorimotor gating | Refractory | Prepulse inhibition | 6-8 weeks | Orefice LL , et al. (2016) |
| Social behavior | Social memory | Restored | Three-chamber social approach test | 6-8 weeks | Orefice LL , et al. (2016) |
| Social behavior | Social dominance | Restored | Tube test of social dominance | 6-8 weeks | Orefice LL , et al. (2016) |
| Social behavior | Social approach | Restored | Three-chamber social approach test | 6-8 weeks | Orefice LL , et al. (2016) |
| Social behavior | Nest building behavior | Ameliorated | Nest building assay | 6-8 weeks | Orefice LL , et al. (2016) |
| Physiological parameters | NA | Not reported | NA | NA | Orefice LL , et al. (2016) |
| Communications | NA | Not reported | NA | NA | Orefice LL , et al. (2016) |
| Developmental profile | NA | Not reported | NA | NA | Orefice LL , et al. (2016) |
| Emotion | Habituation to aversive stimuli | Restored | Startle response test | 6-8 weeks | Orefice LL , et al. (2016) |
| Emotion | Anxiety | Restored | Open field test | 6-8 weeks | Orefice LL , et al. (2016) |
| Emotion | Anxiety | Restored | Elevated plus maze test | 6-8 weeks | Orefice LL , et al. (2016) |
| Immune response | NA | Not reported | NA | NA | Orefice LL , et al. (2016) |
| Learning & memory | Object recognition memory: long-term recall | Refractory | Novel object recognition test | 6-8 weeks | Orefice LL , et al. (2016) |
| Learning & memory | Object recognition memory | No adverse effect | Novel object recognition test | 6-8 weeks | Orefice LL , et al. (2016) |
| Maternal behavior | NA | Not reported | NA | NA | Orefice LL , et al. (2016) |
| Molecular profile | NA | Not reported | NA | NA | Orefice LL , et al. (2016) |
M_MECP2_46_KI_HE_TRUNC(N-TERM)
Model Type: Genetic
Model Genotype: Hemizygous
Mutation:
Deletion of N terminal of Mecp2 (dN) knockin mice were produced by replacing the endogenous Mecp2 allele in embryonic stem cells, which were used to produce germline-transmitting chimaeras. Knockin mice were crossed onto a C57BL/6J background for four generations.
Allele Type: LOF Knockin
Strain of Origin: -
Genetic Background: C57BL/6J
Es cell line: 129/Ola E14 TG2a
Model Source: -
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Tillotson R , et al. (2017) |
| Motor phenotype | Motor coordination and balance | No change | Accelerating rotarod test | 20 weeks | Tillotson R , et al. (2017) |
| Motor phenotype | General locomotor activity: ambulatory activity | No change | Open field test | 20 weeks | Tillotson R , et al. (2017) |
| Neuroanatomy / ultrastructure / cytoarchitecture | NA | Not reported | NA | NA | Tillotson R , et al. (2017) |
| Neurophysiology | NA | Not reported | NA | NA | Tillotson R , et al. (2017) |
| Repetitive behavior | NA | Not reported | NA | NA | Tillotson R , et al. (2017) |
| Seizure | NA | Not reported | NA | NA | Tillotson R , et al. (2017) |
| Sensory | NA | Not reported | NA | NA | Tillotson R , et al. (2017) |
| Social behavior | NA | Not reported | NA | NA | Tillotson R , et al. (2017) |
| Physiological parameters | NA | Not reported | NA | NA | Tillotson R , et al. (2017) |
| Communications | NA | Not reported | NA | NA | Tillotson R , et al. (2017) |
| Developmental profile | Size/growth | No change | Body weight measurement | 4-52 weeks | Tillotson R , et al. (2017) |
| Developmental profile | Mortality/lethality | No change | General observations | 0-52 weeks | Tillotson R , et al. (2017) |
| Emotion | Anxiety | No change | Open field test | 20 weeks | Tillotson R , et al. (2017) |
| Emotion | Anxiety | No change | Elevated plus maze test | 20 weeks | Tillotson R , et al. (2017) |
| Immune response | NA | Not reported | NA | NA | Tillotson R , et al. (2017) |
| Learning & memory | NA | Not reported | NA | NA | Tillotson R , et al. (2017) |
| Maternal behavior | NA | Not reported | NA | NA | Tillotson R , et al. (2017) |
| Molecular profile | Targeted expression | No change | Western blot | 6-13 weeks | Tillotson R , et al. (2017) |
M_MECP2_47_KI_HE_TRUNC(N-C-TERM)
Model Type: Genetic
Model Genotype: Hemizygous
Mutation:
Deletion of N and C terminals of Mecp2 (dNC) knockin mice were produced by replacing the endogenous Mecp2 allele in embryonic stem cells, which were used to produce germline-transmitting chimaeras. Knockin mice were crossed onto a C57BL/6J background for four generations.
Allele Type: LOF Knockin
Strain of Origin: -
Genetic Background: C57BL/6J
Es cell line: 129/Ola E14 TG2a
Model Source: -
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Tillotson R , et al. (2017) |
| Motor phenotype | Motor coordination and balance | No change | Accelerating rotarod test | 20 weeks | Tillotson R , et al. (2017) |
| Motor phenotype | General locomotor activity: ambulatory activity | No change | Open field test | 20 weeks | Tillotson R , et al. (2017) |
| Neuroanatomy / ultrastructure / cytoarchitecture | NA | Not reported | NA | NA | Tillotson R , et al. (2017) |
| Neurophysiology | NA | Not reported | NA | NA | Tillotson R , et al. (2017) |
| Repetitive behavior | NA | Not reported | NA | NA | Tillotson R , et al. (2017) |
| Seizure | NA | Not reported | NA | NA | Tillotson R , et al. (2017) |
| Sensory | NA | Not reported | NA | NA | Tillotson R , et al. (2017) |
| Social behavior | NA | Not reported | NA | NA | Tillotson R , et al. (2017) |
| Physiological parameters | NA | Not reported | NA | NA | Tillotson R , et al. (2017) |
| Communications | NA | Not reported | NA | NA | Tillotson R , et al. (2017) |
| Developmental profile | Size/growth | Increased | Body weight measurement | 4-52 weeks | Tillotson R , et al. (2017) |
| Developmental profile | Mortality/lethality | No change | General observations | 0-52 weeks | Tillotson R , et al. (2017) |
| Emotion | Anxiety | No change | Elevated plus maze test | 20 weeks | Tillotson R , et al. (2017) |
| Emotion | Anxiety | Decreased | Open field test | 20 weeks | Tillotson R , et al. (2017) |
| Immune response | NA | Not reported | NA | NA | Tillotson R , et al. (2017) |
| Learning & memory | NA | Not reported | NA | NA | Tillotson R , et al. (2017) |
| Maternal behavior | NA | Not reported | NA | NA | Tillotson R , et al. (2017) |
| Molecular profile | Targeted expression | Increased | Western blot | 6-13 weeks | Tillotson R , et al. (2017) |
M_MECP2_48_KI_HE_TRUNC(N-I-C)
Model Type: Genetic
Model Genotype: Hemizygous
Mutation:
Deletion of N and C terminals and intermediate region of Mecp2 (dNIC) knockin mice were produced by replacing the endogenous Mecp2 allele in embryonic stem cells, which were used to produce germline-transmitting chimaeras. Knockin mice were crossed onto a C57BL/6J background for four generations.
Allele Type: LOF Knockin
Strain of Origin: -
Genetic Background: C57BL/6J
Es cell line: 129/Ola E14 TG2a
Model Source: -
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Tillotson R , et al. (2017) |
| Motor phenotype | Motor coordination and balance | Decreased | Accelerating rotarod test | 20 weeks | Tillotson R , et al. (2017) |
| Motor phenotype | Limb posture | Abnormal | General observations | 4-52 weeks | Tillotson R , et al. (2017) |
| Motor phenotype | General locomotor activity: ambulatory activity | No change | Open field test | 20 weeks | Tillotson R , et al. (2017) |
| Motor phenotype | Gait | Abnormal | General observations | 4-52 weeks | Tillotson R , et al. (2017) |
| Neuroanatomy / ultrastructure / cytoarchitecture | NA | Not reported | NA | NA | Tillotson R , et al. (2017) |
| Neurophysiology | NA | Not reported | NA | NA | Tillotson R , et al. (2017) |
| Repetitive behavior | NA | Not reported | NA | NA | Tillotson R , et al. (2017) |
| Seizure | NA | Not reported | NA | NA | Tillotson R , et al. (2017) |
| Sensory | NA | Not reported | NA | NA | Tillotson R , et al. (2017) |
| Social behavior | NA | Not reported | NA | NA | Tillotson R , et al. (2017) |
| Physiological parameters | NA | Not reported | NA | NA | Tillotson R , et al. (2017) |
| Communications | NA | Not reported | NA | NA | Tillotson R , et al. (2017) |
| Developmental profile | Size/growth | Decreased | Body weight measurement | 4-52 weeks | Tillotson R , et al. (2017) |
| Developmental profile | Mortality/lethality | No change | General observations | 0-52 weeks | Tillotson R , et al. (2017) |
| Emotion | Anxiety | Decreased | Elevated plus maze test | 20 weeks | Tillotson R , et al. (2017) |
| Emotion | Anxiety | No change | Open field test | 20 weeks | Tillotson R , et al. (2017) |
| Immune response | NA | Not reported | NA | NA | Tillotson R , et al. (2017) |
| Learning & memory | NA | Not reported | NA | NA | Tillotson R , et al. (2017) |
| Maternal behavior | NA | Not reported | NA | NA | Tillotson R , et al. (2017) |
| Molecular profile | Targeted expression | No change | Quantitative pcr (qrt-pcr) | 11 weeks | Tillotson R , et al. (2017) |
| Molecular profile | Targeted expression | Decreased | Western blot | 6-13 weeks | Tillotson R , et al. (2017) |
M_MECP2_49_KI_HE_R133C
Model Type: Genetic
Model Genotype: Hemizygous
Mutation:
Knockin mutant with R133C mutation.
Allele Type: LOF Knockin
Strain of Origin: -
Genetic Background: -
Es cell line: -
Model Source: -
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Tillotson R , et al. (2017) |
| Motor phenotype | Tremor | Abnormal | General observations | 4-28 weeks | Tillotson R , et al. (2017) |
| Motor phenotype | Limb posture | Abnormal | General observations | 4-28 weeks | Tillotson R , et al. (2017) |
| Motor phenotype | General locomotor activity | Abnormal | General observations | 4-28 weeks | Tillotson R , et al. (2017) |
| Motor phenotype | Gait | Abnormal | General observations | 4-28 weeks | Tillotson R , et al. (2017) |
| Neuroanatomy / ultrastructure / cytoarchitecture | NA | Not reported | NA | NA | Tillotson R , et al. (2017) |
| Neurophysiology | NA | Not reported | NA | NA | Tillotson R , et al. (2017) |
| Repetitive behavior | NA | Not reported | NA | NA | Tillotson R , et al. (2017) |
| Seizure | NA | Not reported | NA | NA | Tillotson R , et al. (2017) |
| Sensory | NA | Not reported | NA | NA | Tillotson R , et al. (2017) |
| Social behavior | NA | Not reported | NA | NA | Tillotson R , et al. (2017) |
| Physiological parameters | NA | Not reported | NA | NA | Tillotson R , et al. (2017) |
| Communications | NA | Not reported | NA | NA | Tillotson R , et al. (2017) |
| Developmental profile | Size/growth | Decreased | Body weight measurement | 4-52 weeks | Tillotson R , et al. (2017) |
| Developmental profile | Mortality/lethality | Increased | General observations | 0-30 weeks | Tillotson R , et al. (2017) |
| Emotion | NA | Not reported | NA | NA | Tillotson R , et al. (2017) |
| Immune response | NA | Not reported | NA | NA | Tillotson R , et al. (2017) |
| Learning & memory | NA | Not reported | NA | NA | Tillotson R , et al. (2017) |
| Maternal behavior | NA | Not reported | NA | NA | Tillotson R , et al. (2017) |
| Molecular profile | NA | Not reported | NA | NA | Tillotson R , et al. (2017) |
M_MECP2_4_KI_HE_TRUNC(308)
Model Type: Genetic
Model Genotype: Hemizygous
Mutation:
Gene targeting to introduce a premature stop codon after codon 308 to produce truncated MeCP2 protein.
Allele Type: LOF knockin
Strain of Origin: Not Specified
Genetic Background: C57BL/6
Es cell line: Not Specified
Model Source: Not Specified
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Woods R , et al. (2012) |
| Motor phenotype | Motor coordination and balance | Decreased | Accelerating rotarod test | 5 months | Woods R , et al. (2012) |
| Motor phenotype | Motor coordination and balance | No change | Accelerating rotarod test | 3 months | Woods R , et al. (2012) |
| Motor phenotype | Motor coordination and balance | No change | Accelerating rotarod test | 3 months | Woods R , et al. (2012) |
| Motor phenotype | Motor coordination and balance | Decreased | Wire hang test | 3 months | Woods R , et al. (2012) |
| Motor phenotype | Motor coordination and balance | Decreased | Dowel walk test | 3 months | Woods R , et al. (2012) |
| Motor phenotype | Motor coordination and balance | Decreased | Vertical pole test | 3 months | Woods R , et al. (2012) |
| Motor phenotype | Motor coordination and balance | Decreased | Wire hang test | 3 months | Woods R , et al. (2012) |
| Motor phenotype | Motor coordination and balance | Decreased | Vertical pole test | 3 months | Woods R , et al. (2012) |
| Motor phenotype | Motor coordination and balance | Decreased | Dowel walk test | 3 months | Woods R , et al. (2012) |
| Motor phenotype | Motor coordination and balance | Decreased | Accelerating rotarod test | 5 months | Woods R , et al. (2012) |
| Motor phenotype | Jerky movement | Decreased | Tail suspension test | Unreported | Woods R , et al. (2012) |
| Motor phenotype | Jerky movement | Increased | Tail suspension test | Unreported | Woods R , et al. (2012) |
| Motor phenotype | Grip strength | No change | Grip strength test | Unreported | Woods R , et al. (2012) |
| Motor phenotype | Grip strength | No change | Grip strength test | Unreported | Woods R , et al. (2012) |
| Motor phenotype | General locomotor activity | Decreased | Open field test | Unreported | Woods R , et al. (2012) |
| Motor phenotype | General locomotor activity | Decreased | Open field test | Unreported | Woods R , et al. (2012) |
| Motor phenotype | General locomotor activity | Decreased | Open field test | Unreported | Woods R , et al. (2012) |
| Neuroanatomy / ultrastructure / cytoarchitecture | NA | Not reported | NA | NA | Woods R , et al. (2012) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Brain size | No change | Pathology | Unreported | Woods R , et al. (2012) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Brain size | No change | Pathology | Unreported | Woods R , et al. (2012) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Brain morphology | No change | Histology | Unreported | Woods R , et al. (2012) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Brain morphology | No change | Histology | Unreported | Woods R , et al. (2012) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Brain anatomy | No change | Immunohistochemistry | Unreported | Woods R , et al. (2012) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Brain anatomy | No change | Immunohistochemistry | Unreported | Woods R , et al. (2012) |
| Neurophysiology | NA | Not reported | NA | NA | Woods R , et al. (2012) |
| Repetitive behavior | NA | Not reported | NA | NA | Woods R , et al. (2012) |
| Seizure | Seizures | Increased | Electroencephalogram (eeg) | 7 months | Woods R , et al. (2012) |
| Seizure | Seizures | Increased | Electroencephalogram (eeg) | 7 months | Woods R , et al. (2012) |
| Seizure | NA | Not reported | NA | NA | Woods R , et al. (2012) |
| Sensory | NA | Not reported | NA | NA | Woods R , et al. (2012) |
| Social behavior | Social interaction | Decreased | Partition test | Unreported | Woods R , et al. (2012) |
| Social behavior | Social interaction | Decreased | Three-chamber social approach test | 5.7 weeks | Woods R , et al. (2012) |
| Social behavior | Aggression | No change | Resident-intruder test | 6 months | Woods R , et al. (2012) |
| Social behavior | Aggression | No change | Resident-intruder test | 6 months | Woods R , et al. (2012) |
| Physiological parameters | NA | Not reported | NA | NA | Woods R , et al. (2012) |
| Communications | Ultrasonic vocalization | No change | Monitoring ultrasonic vocalizations | P16 | Woods R , et al. (2012) |
| Communications | NA | Not reported | NA | NA | Woods R , et al. (2012) |
| Developmental profile | NA | Not reported | NA | NA | Woods R , et al. (2012) |
| Developmental profile | General characteristics | No change | General observations | 6 weeks | Woods R , et al. (2012) |
| Developmental profile | General characteristics | No change | General observations | 6 weeks | Woods R , et al. (2012) |
| Emotion | Anxiety | Increased | Open field test | Unreported | Woods R , et al. (2012) |
| Emotion | Anxiety | Increased | Open field test | Unreported | Woods R , et al. (2012) |
| Emotion | Anxiety | Decreased | Elevated plus maze test | 4 weeks | Woods R , et al. (2012) |
| Immune response | NA | Not reported | NA | NA | Woods R , et al. (2012) |
| Learning & memory | Spatial reference memory | No change | Morris water maze test | Unreported | Woods R , et al. (2012) |
| Learning & memory | Spatial learning | No change | Morris water maze test | 3, 5 months | Woods R , et al. (2012) |
| Learning & memory | Spatial learning | No change | Morris water maze test | 3, 5 months | Woods R , et al. (2012) |
| Learning & memory | Cued or contextual fear conditioning: memory of cue | No change | Fear conditioning test | 3, 5 months | Woods R , et al. (2012) |
| Learning & memory | Cued or contextual fear conditioning | No change | Fear conditioning test | 3, 5 months | Woods R , et al. (2012) |
| Maternal behavior | NA | Not reported | NA | NA | Woods R , et al. (2012) |
| Molecular profile | Protein expression level evidence | No change | Laser scanning cytometry | Unreported | Woods R , et al. (2012) |
| Molecular profile | Gene expression | No change | Quantitative pcr (qrt-pcr) | Unreported | Woods R , et al. (2012) |
| Molecular profile | Dna methylation | No change | Dot-blot analysis | Unreported | Woods R , et al. (2012) |
| Molecular profile | Chromatin modification | No change | Western blot | Unreported | Woods R , et al. (2012) |
| Molecular profile | Chromatin modification | No change | Western blot | Unreported | Woods R , et al. (2012) |
| Molecular profile | Chromatin modification | Abnormal | Western blot | Unreported | Woods R , et al. (2012) |
| Molecular profile | Chromatin modification | Abnormal | Western blot | Unreported | Woods R , et al. (2012) |
M_MECP2_4_KI_HT_TRUNC(308)
Model Type: Genetic
Model Genotype: Heterozygous
Mutation:
Gene targeting to introduce a premature stop codon after codon 308 to produce truncated MeCP2 protein.
Allele Type: LOF knockin
Strain of Origin: Not Specified
Genetic Background: C57BL/6
Es cell line: Not Specified
Model Source: Not Specified
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Kloth AD , et al. (2015) |
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Woods R , et al. (2012) |
| Motor phenotype | NA | Not reported | NA | NA | Kloth AD , et al. (2015) |
| Motor phenotype | General locomotor activity | Decreased | Open field test | Unreported | Woods R , et al. (2012) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Neuronal number: purkinje cells | No change | Histology | 2-4 months | Kloth AD , et al. (2015) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Dendritic architecture: spine density | Decreased | Sholl analysis | 2-4 months | Kloth AD , et al. (2015) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Dendritic architecture: dendritic tree complexity | No change | Sholl analysis | 2-4 months | Kloth AD , et al. (2015) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Cerebellar morphology: molecular layer thickness | No change | Histology | 2-4 months | Kloth AD , et al. (2015) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Cerebellar morphology: granule cell layer thickness | No change | Histology | 2-4 months | Kloth AD , et al. (2015) |
| Neuroanatomy / ultrastructure / cytoarchitecture | NA | Not reported | NA | NA | Woods R , et al. (2012) |
| Neurophysiology | NA | Not reported | NA | NA | Kloth AD , et al. (2015) |
| Neurophysiology | NA | Not reported | NA | NA | Woods R , et al. (2012) |
| Repetitive behavior | NA | Not reported | NA | NA | Kloth AD , et al. (2015) |
| Repetitive behavior | NA | Not reported | NA | NA | Woods R , et al. (2012) |
| Seizure | NA | Not reported | NA | NA | Kloth AD , et al. (2015) |
| Seizure | NA | Not reported | NA | NA | Woods R , et al. (2012) |
| Sensory | NA | Not reported | NA | NA | Kloth AD , et al. (2015) |
| Sensory | NA | Not reported | NA | NA | Woods R , et al. (2012) |
| Social behavior | NA | Not reported | NA | NA | Kloth AD , et al. (2015) |
| Social behavior | Social interaction | No change | Three-chamber social approach test | Unreported | Woods R , et al. (2012) |
| Social behavior | Social interaction | No change | Three-chamber social approach test | Unreported | Woods R , et al. (2012) |
| Social behavior | Social interaction | Decreased | Partition test | Unreported | Woods R , et al. (2012) |
| Physiological parameters | NA | Not reported | NA | NA | Kloth AD , et al. (2015) |
| Physiological parameters | NA | Not reported | NA | NA | Woods R , et al. (2012) |
| Communications | NA | Not reported | NA | NA | Kloth AD , et al. (2015) |
| Communications | Ultrasonic vocalization | No change | Monitoring ultrasonic vocalizations | P16 | Woods R , et al. (2012) |
| Developmental profile | NA | Not reported | NA | NA | Kloth AD , et al. (2015) |
| Developmental profile | Size/growth | No change | General observations | P8-p18 | Woods R , et al. (2012) |
| Emotion | NA | Not reported | NA | NA | Kloth AD , et al. (2015) |
| Emotion | Anxiety | No change | Elevated plus maze test | Unreported | Woods R , et al. (2012) |
| Immune response | NA | Not reported | NA | NA | Kloth AD , et al. (2015) |
| Immune response | NA | Not reported | NA | NA | Woods R , et al. (2012) |
| Learning & memory | Eye blink conditioning: extinction and reactivation | No change | Eyeblink conditioning | 2-4 months | Kloth AD , et al. (2015) |
| Learning & memory | Eye blink conditioning | Decreased | Eyeblink conditioning | 2-4 months | Kloth AD , et al. (2015) |
| Learning & memory | Eye blink conditioning | No change | Eyeblink conditioning | 2-4 months | Kloth AD , et al. (2015) |
| Learning & memory | Spatial reference memory | No change | Morris water maze test | Unreported | Woods R , et al. (2012) |
| Maternal behavior | NA | Not reported | NA | NA | Kloth AD , et al. (2015) |
| Maternal behavior | NA | Not reported | NA | NA | Woods R , et al. (2012) |
| Molecular profile | NA | Not reported | NA | NA | Kloth AD , et al. (2015) |
| Molecular profile | Protein expression level evidence | No change | Laser scanning cytometry | Unreported | Woods R , et al. (2012) |
| Molecular profile | Gene expression | No change | Quantitative pcr (qrt-pcr) | Unreported | Woods R , et al. (2012) |
| Molecular profile | Dna methylation | No change | Dot-blot analysis | Unreported | Woods R , et al. (2012) |
M_MECP2_5.11_CKO_HE
Model Type: Genetic
Model Genotype: Hemizygous
Mutation:
Conditional deletion of exon 3- 4 of the Mecp2 gene in male, mice using Emx1 Cre, in the neurons and glia of the neocortex, hippocampus and pallium starting E10.5
Allele Type: Conditional loss-of-function
Strain of Origin: -
Genetic Background: 129/SvEv * C57BL/6J
Es cell line: -
Model Source: -
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Orefice LL , et al. (2016) |
| Motor phenotype | Motor coordination and balance | Decreased | Accelerating rotarod test | 6-8 weeks | Orefice LL , et al. (2016) |
| Motor phenotype | General locomotor activity | Decreased | Open field test | 6-8 weeks | Orefice LL , et al. (2016) |
| Neuroanatomy / ultrastructure / cytoarchitecture | NA | Not reported | NA | NA | Orefice LL , et al. (2016) |
| Neurophysiology | NA | Not reported | NA | NA | Orefice LL , et al. (2016) |
| Repetitive behavior | NA | Not reported | NA | NA | Orefice LL , et al. (2016) |
| Seizure | NA | Not reported | NA | NA | Orefice LL , et al. (2016) |
| Sensory | Touch | No change | Response to air puff | 6-8 weeks | Orefice LL , et al. (2016) |
| Sensory | Tactile memory | No change | Textured novel object recognition test (t-nort) | 6-8 weeks | Orefice LL , et al. (2016) |
| Sensory | Startle response: acoustic stimulus | Decreased | Startle response test | 6-8 weeks | Orefice LL , et al. (2016) |
| Sensory | Sensorimotor gating: tactile cue | No change | Prepulse inhibition | 6-8 weeks | Orefice LL , et al. (2016) |
| Sensory | Sensorimotor gating | No change | Prepulse inhibition | 6-8 weeks | Orefice LL , et al. (2016) |
| Social behavior | Social memory | No change | Three-chamber social approach test | 6-8 weeks | Orefice LL , et al. (2016) |
| Social behavior | Social dominance | No change | Tube test of social dominance | 6-8 weeks | Orefice LL , et al. (2016) |
| Social behavior | Social approach | No change | Three-chamber social approach test | 6-8 weeks | Orefice LL , et al. (2016) |
| Social behavior | Nest building behavior | No change | Nest building assay | 6-8 weeks | Orefice LL , et al. (2016) |
| Physiological parameters | NA | Not reported | NA | NA | Orefice LL , et al. (2016) |
| Communications | NA | Not reported | NA | NA | Orefice LL , et al. (2016) |
| Developmental profile | Mortality/lethality | No change | Survival analysis | 1-10 months | Orefice LL , et al. (2016) |
| Emotion | Habituation to aversive stimuli | No change | Startle response test | 6-8 weeks | Orefice LL , et al. (2016) |
| Emotion | Exploratory activity | No change | Textured novel object recognition test (t-nort) | 6-8 weeks | Orefice LL , et al. (2016) |
| Emotion | Anxiety | No change | Open field test | 6-8 weeks | Orefice LL , et al. (2016) |
| Emotion | Anxiety | No change | Elevated plus maze test | 6-8 weeks | Orefice LL , et al. (2016) |
| Immune response | NA | Not reported | NA | NA | Orefice LL , et al. (2016) |
| Learning & memory | Object recognition memory: long-term recall | No change | Novel object recognition test | 6-8 weeks | Orefice LL , et al. (2016) |
| Learning & memory | Object recognition memory | No change | Novel object recognition test | 6-8 weeks | Orefice LL , et al. (2016) |
| Maternal behavior | NA | Not reported | NA | NA | Orefice LL , et al. (2016) |
| Molecular profile | NA | Not reported | NA | NA | Orefice LL , et al. (2016) |
M_MECP2_5.12_CKO_HE
Model Type: Genetic
Model Genotype: Homozygous
Mutation:
Conditional deletion of exon 3- 4 of the Mecp2 gene in male mice, using Nestin-cre, in neuronal, glial and other cell types in the central and peripheral nervous system
Allele Type: Conditional loss-of-function
Strain of Origin: C57BL/6J
Genetic Background: Not Specified
Es cell line: E14 TG2a
Model Source: Not Specified
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Guy J , et al. (2001) |
| Motor phenotype | Spontaneous movement | Decreased | Open field test | 3-8 weeks | Guy J , et al. (2001) |
| Motor phenotype | Limb posture | Abnormal | Tail suspension test | Unreported | Guy J , et al. (2001) |
| Motor phenotype | Grip strength | No change | Grip strength test | Unreported | Guy J , et al. (2001) |
| Motor phenotype | Gait | Abnormal | General observations | 3-8 weeks | Guy J , et al. (2001) |
| Neuroanatomy / ultrastructure / cytoarchitecture | NA | Not reported | NA | NA | Guy J , et al. (2001) |
| Neurophysiology | NA | Not reported | NA | NA | Guy J , et al. (2001) |
| Repetitive behavior | NA | Not reported | NA | NA | Guy J , et al. (2001) |
| Seizure | NA | Not reported | NA | NA | Guy J , et al. (2001) |
| Sensory | Vision | No change | Forepaw reaching test | Unreported | Guy J , et al. (2001) |
| Social behavior | NA | Not reported | NA | NA | Guy J , et al. (2001) |
| Physiological parameters | NA | Not reported | NA | NA | Guy J , et al. (2001) |
| Communications | NA | Not reported | NA | NA | Guy J , et al. (2001) |
| Developmental profile | Size/growth | Decreased | General observations | 4 weeks | Guy J , et al. (2001) |
| Developmental profile | Mortality/lethality | Increased | General observations | 7.5 weeks | Guy J , et al. (2001) |
| Developmental profile | Developmental trajectory | Abnormal | General observations | Unreported | Guy J , et al. (2001) |
| Emotion | NA | Not reported | NA | NA | Guy J , et al. (2001) |
| Immune response | NA | Not reported | NA | NA | Guy J , et al. (2001) |
| Learning & memory | NA | Not reported | NA | NA | Guy J , et al. (2001) |
| Maternal behavior | NA | Not reported | NA | NA | Guy J , et al. (2001) |
| Molecular profile | NA | Not reported | NA | NA | Guy J , et al. (2001) |
M_MECP2_5.13_CKO_HE
Model Type: Genetic
Model Genotype: Hemizygous
Mutation:
Conditional deletion of exon 3- 4 of the Mecp2 gene in male mice, using Advillin-creERT2, in dorsal root ganglion and trigeminal somatosensory neurons (primary somatosensory neurons) after administration of tamoxifen to male mice for 5 days starting at P28. Authors state that Mecp2 protein is deleted from 90% of DRG neurons whereas expression in the spinal cord and brain remain normal.
Allele Type: Conditional loss-of-function
Strain of Origin: -
Genetic Background: 129/SvEv * C57BL/6J
Es cell line: -
Model Source: -
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Orefice LL , et al. (2016) |
| Motor phenotype | Motor coordination and balance | No change | Accelerating rotarod test | 6-8 weeks | Orefice LL , et al. (2016) |
| Motor phenotype | General locomotor activity | No change | Open field test | 6-8 weeks | Orefice LL , et al. (2016) |
| Neuroanatomy / ultrastructure / cytoarchitecture | NA | Not reported | NA | NA | Orefice LL , et al. (2016) |
| Neurophysiology | NA | Not reported | NA | NA | Orefice LL , et al. (2016) |
| Repetitive behavior | NA | Not reported | NA | NA | Orefice LL , et al. (2016) |
| Seizure | NA | Not reported | NA | NA | Orefice LL , et al. (2016) |
| Sensory | Touch | Increased | Response to air puff | 6-8 weeks | Orefice LL , et al. (2016) |
| Sensory | Tactile memory | Decreased | Textured novel object recognition test (t-nort) | 6-8 weeks | Orefice LL , et al. (2016) |
| Sensory | Startle response: acoustic stimulus | No change | Startle response test | 6-8 weeks | Orefice LL , et al. (2016) |
| Sensory | Sensorimotor gating: tactile cue | Decreased | Prepulse inhibition | 6-8 weeks | Orefice LL , et al. (2016) |
| Sensory | Sensorimotor gating | No change | Prepulse inhibition | 6-8 weeks | Orefice LL , et al. (2016) |
| Social behavior | Social memory | Decreased | Three-chamber social approach test | 6-8 weeks | Orefice LL , et al. (2016) |
| Social behavior | Social dominance | Increased | Tube test of social dominance | 6-8 weeks | Orefice LL , et al. (2016) |
| Social behavior | Social approach | No change | Three-chamber social approach test | 6-8 weeks | Orefice LL , et al. (2016) |
| Social behavior | Nest building behavior | Decreased | Nest building assay | 6-8 weeks | Orefice LL , et al. (2016) |
| Physiological parameters | NA | Not reported | NA | NA | Orefice LL , et al. (2016) |
| Communications | NA | Not reported | NA | NA | Orefice LL , et al. (2016) |
| Developmental profile | Mortality/lethality | No change | Survival analysis | 1-10 months | Orefice LL , et al. (2016) |
| Emotion | Habituation to aversive stimuli | No change | Startle response test | 6-8 weeks | Orefice LL , et al. (2016) |
| Emotion | Exploratory activity | No change | Textured novel object recognition test (t-nort) | 6-8 weeks | Orefice LL , et al. (2016) |
| Emotion | Anxiety | No change | Open field test | 6-8 weeks | Orefice LL , et al. (2016) |
| Emotion | Anxiety | No change | Elevated plus maze test | 6-8 weeks | Orefice LL , et al. (2016) |
| Immune response | NA | Not reported | NA | NA | Orefice LL , et al. (2016) |
| Learning & memory | Object recognition memory: long-term recall | No change | Novel object recognition test | 6-8 weeks | Orefice LL , et al. (2016) |
| Maternal behavior | NA | Not reported | NA | NA | Orefice LL , et al. (2016) |
| Molecular profile | NA | Not reported | NA | NA | Orefice LL , et al. (2016) |
M_MECP2_5.13_CKO_HT
Model Type: Genetic
Model Genotype: Heterozygous
Mutation:
Conditional heterozygous deletion of exon 3- 4 of the Mecp2 gene in female mice, using Advillin-creERT2, in dorsal root ganglion and trigeminal somatosensory neurons (primary somatosensory neurons) after administration of tamoxifen to female mice for 5 days starting at P28. Authors state that Mecp2 protein is deleted from 90% of DRG neurons whereas expression in the spinal cord and brain remain normal.
Allele Type: Conditional loss-of-function
Strain of Origin: -
Genetic Background: 129/SvEv * C57BL/6J
Es cell line: -
Model Source: -
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Orefice LL , et al. (2016) |
| Motor phenotype | NA | Not reported | NA | NA | Orefice LL , et al. (2016) |
| Neuroanatomy / ultrastructure / cytoarchitecture | NA | Not reported | NA | NA | Orefice LL , et al. (2016) |
| Neurophysiology | NA | Not reported | NA | NA | Orefice LL , et al. (2016) |
| Repetitive behavior | NA | Not reported | NA | NA | Orefice LL , et al. (2016) |
| Seizure | NA | Not reported | NA | NA | Orefice LL , et al. (2016) |
| Sensory | Touch | Increased | Response to air puff | 6-8 weeks | Orefice LL , et al. (2016) |
| Sensory | Tactile memory | Decreased | Textured novel object recognition test (t-nort) | 6-8 weeks | Orefice LL , et al. (2016) |
| Sensory | Startle response: acoustic stimulus | No change | Startle response test | 6-8 weeks | Orefice LL , et al. (2016) |
| Sensory | Sensorimotor gating: tactile cue | Decreased | Prepulse inhibition | 6-8 weeks | Orefice LL , et al. (2016) |
| Sensory | Sensorimotor gating | No change | Prepulse inhibition | 6-8 weeks | Orefice LL , et al. (2016) |
| Social behavior | NA | Not reported | NA | NA | Orefice LL , et al. (2016) |
| Physiological parameters | NA | Not reported | NA | NA | Orefice LL , et al. (2016) |
| Communications | NA | Not reported | NA | NA | Orefice LL , et al. (2016) |
| Developmental profile | NA | Not reported | NA | NA | Orefice LL , et al. (2016) |
| Emotion | Exploratory activity | No change | Textured novel object recognition test (t-nort) | 6-8 weeks | Orefice LL , et al. (2016) |
| Immune response | NA | Not reported | NA | NA | Orefice LL , et al. (2016) |
| Learning & memory | Object recognition memory: long-term recall | No change | Novel object recognition test | 6-8 weeks | Orefice LL , et al. (2016) |
| Maternal behavior | NA | Not reported | NA | NA | Orefice LL , et al. (2016) |
| Molecular profile | NA | Not reported | NA | NA | Orefice LL , et al. (2016) |
M_MECP2_5.14_CKO_HE
Model Type: Genetic
Model Genotype: Hemizygous
Mutation:
Conditional deletion of exon 3- 4 of the Mecp2 gene in male mice, using Cdx-cre, in all cells caudal to cervical level 2 leading to loss of Mecp2 protein from the DRG and spinal cord
Allele Type: Conditional loss-of-function
Strain of Origin: -
Genetic Background: 129/SvEv * C57BL/6J
Es cell line: -
Model Source: -
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Orefice LL , et al. (2016) |
| Motor phenotype | Motor coordination and balance | Decreased | Accelerating rotarod test | 6-8 weeks | Orefice LL , et al. (2016) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Brain size | No change | Histology | 3-6 months | Orefice LL , et al. (2016) |
| Neurophysiology | NA | Not reported | NA | NA | Orefice LL , et al. (2016) |
| Repetitive behavior | NA | Not reported | NA | NA | Orefice LL , et al. (2016) |
| Seizure | NA | Not reported | NA | NA | Orefice LL , et al. (2016) |
| Sensory | Touch | Increased | Response to air puff | 6-8 weeks | Orefice LL , et al. (2016) |
| Sensory | Tactile memory | Decreased | Textured novel object recognition test (t-nort) | 6-8 weeks | Orefice LL , et al. (2016) |
| Sensory | Startle response: acoustic stimulus | Decreased | Startle response test | 6-8 weeks | Orefice LL , et al. (2016) |
| Sensory | Sensorimotor gating: tactile cue | Decreased | Prepulse inhibition | 6-8 weeks | Orefice LL , et al. (2016) |
| Sensory | Sensorimotor gating | No change | Prepulse inhibition | 6-8 weeks | Orefice LL , et al. (2016) |
| Social behavior | NA | Not reported | NA | NA | Orefice LL , et al. (2016) |
| Physiological parameters | Respiratory function | Decreased | Whole body plethysmography | 2-2.5 months | Orefice LL , et al. (2016) |
| Physiological parameters | NA | Not reported | NA | NA | Orefice LL , et al. (2016) |
| Communications | NA | Not reported | NA | NA | Orefice LL , et al. (2016) |
| Developmental profile | Size/growth | Decreased | Body weight measurement | 2-2.5 months | Orefice LL , et al. (2016) |
| Developmental profile | Mortality/lethality | Increased | Survival analysis | 1-10 months | Orefice LL , et al. (2016) |
| Emotion | NA | Not reported | NA | NA | Orefice LL , et al. (2016) |
| Immune response | NA | Not reported | NA | NA | Orefice LL , et al. (2016) |
| Learning & memory | Object recognition memory: long-term recall | No change | Novel object recognition test | 6-8 weeks | Orefice LL , et al. (2016) |
| Learning & memory | Object recognition memory | No change | Novel object recognition test | 6-8 weeks | Orefice LL , et al. (2016) |
| Maternal behavior | NA | Not reported | NA | NA | Orefice LL , et al. (2016) |
| Molecular profile | NA | Not reported | NA | NA | Orefice LL , et al. (2016) |
M_MECP2_5.15_CKO_HE
Model Type: Genetic
Model Genotype: Hemizygous
Mutation:
Conditional deletion of exon 3- 4 of the Mecp2 gene in male mice, using Advillin-cre, in dorsal root ganglion and trigeminal somatosensory neurons, while Mecp2 expression is preserved in the spinal cord (males)
Allele Type: Conditional loss-of-function
Strain of Origin: -
Genetic Background: 129/SvEv * C57BL/6J
Es cell line: -
Model Source: -
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Orefice LL , et al. (2016) |
| Motor phenotype | Motor coordination and balance | No change | Accelerating rotarod test | 6-8 weeks | Orefice LL , et al. (2016) |
| Motor phenotype | General locomotor activity | Decreased | Open field test | 6-8 weeks | Orefice LL , et al. (2016) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Synaptic neuroreceptors | Decreased | Immunohistochemistry | 3-6 months | Orefice LL , et al. (2016) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Brain size | No change | Histology | 3-6 months | Orefice LL , et al. (2016) |
| Neurophysiology | Spinal reflex: ventral root potential (vrp) | No change | Whole-cell patch clamp | P14-p19 | Orefice LL , et al. (2016) |
| Neurophysiology | Quantal post synaptic current frequency: excitatory | Increased | Whole-cell patch clamp | P14-p19 | Orefice LL , et al. (2016) |
| Neurophysiology | Quantal post synaptic current amplitude: excitatory | No change | Whole-cell patch clamp | P14-p19 | Orefice LL , et al. (2016) |
| Neurophysiology | Neurotransmitter release: quantal parameters | Increased | Whole-cell patch clamp | 6-8 weeks | Orefice LL , et al. (2016) |
| Neurophysiology | Dorsal root potential (drp) | Decreased | Whole-cell patch clamp | P14-p19 | Orefice LL , et al. (2016) |
| Neurophysiology | Decay kinetics of evoked post synaptic currents | No change | Whole-cell patch clamp | P14-p19 | Orefice LL , et al. (2016) |
| Repetitive behavior | NA | Not reported | NA | NA | Orefice LL , et al. (2016) |
| Seizure | NA | Not reported | NA | NA | Orefice LL , et al. (2016) |
| Sensory | Touch | Increased | Response to air puff | 6-8 weeks | Orefice LL , et al. (2016) |
| Sensory | Tactile memory | Decreased | Textured novel object recognition test (t-nort) | 6-8 weeks | Orefice LL , et al. (2016) |
| Sensory | Startle response: acoustic stimulus | No change | Startle response test | 6-8 weeks | Orefice LL , et al. (2016) |
| Sensory | Sensorimotor gating: tactile cue | Decreased | Prepulse inhibition | 6-8 weeks | Orefice LL , et al. (2016) |
| Sensory | Sensorimotor gating | No change | Prepulse inhibition | 6-8 weeks | Orefice LL , et al. (2016) |
| Social behavior | Social memory | Decreased | Three-chamber social approach test | 6-8 weeks | Orefice LL , et al. (2016) |
| Social behavior | Social dominance | Decreased | Tube test of social dominance | 6-8 weeks | Orefice LL , et al. (2016) |
| Social behavior | Social approach | Decreased | Three-chamber social approach test | 6-8 weeks | Orefice LL , et al. (2016) |
| Social behavior | Nest building behavior | Decreased | Nest building assay | 6-8 weeks | Orefice LL , et al. (2016) |
| Physiological parameters | Respiratory function | No change | Whole body plethysmography | 2-2.5 months | Orefice LL , et al. (2016) |
| Physiological parameters | NA | Not reported | NA | NA | Orefice LL , et al. (2016) |
| Communications | NA | Not reported | NA | NA | Orefice LL , et al. (2016) |
| Developmental profile | Size/growth | No change | Body weight measurement | 2-2.5 months | Orefice LL , et al. (2016) |
| Developmental profile | Mortality/lethality | No change | Survival analysis | 1-10 months | Orefice LL , et al. (2016) |
| Emotion | Habituation to aversive stimuli | Decreased | Startle response test | 6-8 weeks | Orefice LL , et al. (2016) |
| Emotion | Exploratory activity | No change | Textured novel object recognition test (t-nort) | 6-8 weeks | Orefice LL , et al. (2016) |
| Emotion | Anxiety | Increased | Open field test | 6-8 weeks | Orefice LL , et al. (2016) |
| Emotion | Anxiety | Increased | Elevated plus maze test | 6-8 weeks | Orefice LL , et al. (2016) |
| Immune response | NA | Not reported | NA | NA | Orefice LL , et al. (2016) |
| Learning & memory | Object recognition memory | No change | Novel object recognition test | 6-8 weeks | Orefice LL , et al. (2016) |
| Maternal behavior | NA | Not reported | NA | NA | Orefice LL , et al. (2016) |
| Molecular profile | NA | Not reported | NA | NA | Orefice LL , et al. (2016) |
M_MECP2_5.15_CKO_HT
Model Type: Genetic
Model Genotype: Heterozygous
Mutation:
Conditional heterozygous deletion of exon 3- 4 of the Mecp2 gene using Advillin-cre, in dorsal root ganglion and trigeminal somatosensory neurons, while Mecp2 expression is preserved in the spinal cord (females)
Allele Type: Conditional loss-of-function
Strain of Origin: -
Genetic Background: 129/SvEv * C57BL/6J
Es cell line: -
Model Source: -
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Orefice LL , et al. (2016) |
| Motor phenotype | NA | Not reported | NA | NA | Orefice LL , et al. (2016) |
| Neuroanatomy / ultrastructure / cytoarchitecture | NA | Not reported | NA | NA | Orefice LL , et al. (2016) |
| Neurophysiology | NA | Not reported | NA | NA | Orefice LL , et al. (2016) |
| Repetitive behavior | NA | Not reported | NA | NA | Orefice LL , et al. (2016) |
| Seizure | NA | Not reported | NA | NA | Orefice LL , et al. (2016) |
| Sensory | Touch | Increased | Response to air puff | 6-8 weeks | Orefice LL , et al. (2016) |
| Sensory | Tactile memory | Decreased | Textured novel object recognition test (t-nort) | 6-8 weeks | Orefice LL , et al. (2016) |
| Sensory | Startle response: acoustic stimulus | No change | Startle response test | 6-8 weeks | Orefice LL , et al. (2016) |
| Sensory | Sensorimotor gating | No change | Prepulse inhibition | 6-8 weeks | Orefice LL , et al. (2016) |
| Social behavior | NA | Not reported | NA | NA | Orefice LL , et al. (2016) |
| Physiological parameters | NA | Not reported | NA | NA | Orefice LL , et al. (2016) |
| Communications | NA | Not reported | NA | NA | Orefice LL , et al. (2016) |
| Developmental profile | NA | Not reported | NA | NA | Orefice LL , et al. (2016) |
| Emotion | Exploratory activity | No change | Textured novel object recognition test (t-nort) | 6-8 weeks | Orefice LL , et al. (2016) |
| Immune response | NA | Not reported | NA | NA | Orefice LL , et al. (2016) |
| Learning & memory | Object recognition memory | No change | Novel object recognition test | 6-8 weeks | Orefice LL , et al. (2016) |
| Maternal behavior | NA | Not reported | NA | NA | Orefice LL , et al. (2016) |
| Molecular profile | NA | Not reported | NA | NA | Orefice LL , et al. (2016) |
M_MECP2_5.2_KO_HE
Model Type: Genetic
Model Genotype: Hemizygous
Mutation:
Targeted Cre-loxP mediated deletion of exons 3 and 4 of Mecp2 gene.
Allele Type: Knockout
Strain of Origin: C57BL/6J
Genetic Background: Not Specified
Es cell line: E14 TG2a
Model Source: Jackson Laboratory
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Braun S , et al. (2011) |
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Roux JC , et al. (2011) |
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Goffin D , et al. (2011) |
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Fukuda T , et al. (2005) |
| Motor phenotype | Motor coordination and balance | Decreased | Accelerating rotarod test | 6-8 weeks | Braun S , et al. (2011) |
| Motor phenotype | General locomotor activity | Decreased | Open field test | 6-8 weeks | Braun S , et al. (2011) |
| Motor phenotype | Clasping reflex | Increased | General observations | 0-14 weeks | Braun S , et al. (2011) |
| Motor phenotype | General locomotor activity | Decreased | Open field test | Unreported | Roux JC , et al. (2011) |
| Motor phenotype | Motor coordination and balance | Decreased | Accelerating rotarod test | Unreported | Goffin D , et al. (2011) |
| Motor phenotype | General locomotor activity | Decreased | Open field test | 9 weeks | Goffin D , et al. (2011) |
| Motor phenotype | NA | Not reported | NA | NA | Fukuda T , et al. (2005) |
| Neuroanatomy / ultrastructure / cytoarchitecture | NA | Not reported | NA | NA | Braun S , et al. (2011) |
| Neuroanatomy / ultrastructure / cytoarchitecture | NA | Not reported | NA | NA | Roux JC , et al. (2011) |
| Neuroanatomy / ultrastructure / cytoarchitecture | NA | Not reported | NA | NA | Goffin D , et al. (2011) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Synaptic morphology | Decreased | Electron microscopy | P14 | Fukuda T , et al. (2005) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Dendritic architecture: spine density | Decreased | Golgi-cox staining | 2-6 weeks | Fukuda T , et al. (2005) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Brain morphology | Increased | Histology | 4-6 weeks | Fukuda T , et al. (2005) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Brain morphology | Decreased | Immunohistochemistry | Unreported | Fukuda T , et al. (2005) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Brain morphology | Decreased | Histology | 6 weeks | Fukuda T , et al. (2005) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Brain morphology | Decreased | Histology | 6 weeks | Fukuda T , et al. (2005) |
| Neurophysiology | NA | Not reported | NA | NA | Braun S , et al. (2011) |
| Neurophysiology | Neurotransmitter release: neurotrophins | No change | Quantitative pcr (qrt-pcr) | 7.5 weeks | Roux JC , et al. (2011) |
| Neurophysiology | Event related potential (erp) in electroencephalography (eeg) | Increased | Electroencephalogram (eeg) | 3 months | Goffin D , et al. (2011) |
| Neurophysiology | Event related potential (erp) in electroencephalography (eeg) | Decreased | Electroencephalogram (eeg) | 3 months | Goffin D , et al. (2011) |
| Neurophysiology | Event related potential (erp) in electroencephalography (eeg) | Abnormal | Electroencephalogram (eeg) | 3 months | Goffin D , et al. (2011) |
| Neurophysiology | NA | Not reported | NA | NA | Fukuda T , et al. (2005) |
| Repetitive behavior | NA | Not reported | NA | NA | Braun S , et al. (2011) |
| Repetitive behavior | NA | Not reported | NA | NA | Roux JC , et al. (2011) |
| Repetitive behavior | NA | Not reported | NA | NA | Goffin D , et al. (2011) |
| Repetitive behavior | NA | Not reported | NA | NA | Fukuda T , et al. (2005) |
| Seizure | NA | Not reported | NA | NA | Braun S , et al. (2011) |
| Seizure | NA | Not reported | NA | NA | Roux JC , et al. (2011) |
| Seizure | NA | Not reported | NA | NA | Goffin D , et al. (2011) |
| Seizure | NA | Not reported | NA | NA | Fukuda T , et al. (2005) |
| Sensory | NA | Not reported | NA | NA | Braun S , et al. (2011) |
| Sensory | NA | Not reported | NA | NA | Roux JC , et al. (2011) |
| Sensory | Hearing | No change | Auditory brainstem response test | 4-12 weeks | Goffin D , et al. (2011) |
| Sensory | NA | Not reported | NA | NA | Fukuda T , et al. (2005) |
| Social behavior | NA | Not reported | NA | NA | Braun S , et al. (2011) |
| Social behavior | NA | Not reported | NA | NA | Roux JC , et al. (2011) |
| Social behavior | NA | Not reported | NA | NA | Goffin D , et al. (2011) |
| Social behavior | NA | Not reported | NA | NA | Fukuda T , et al. (2005) |
| Physiological parameters | NA | Not reported | NA | NA | Braun S , et al. (2011) |
| Physiological parameters | NA | Not reported | NA | NA | Roux JC , et al. (2011) |
| Physiological parameters | NA | Not reported | NA | NA | Goffin D , et al. (2011) |
| Physiological parameters | NA | Not reported | NA | NA | Fukuda T , et al. (2005) |
| Communications | NA | Not reported | NA | NA | Braun S , et al. (2011) |
| Communications | NA | Not reported | NA | NA | Roux JC , et al. (2011) |
| Communications | NA | Not reported | NA | NA | Goffin D , et al. (2011) |
| Communications | NA | Not reported | NA | NA | Fukuda T , et al. (2005) |
| Developmental profile | Mortality/lethality | Increased | General observations | 0-4.5 months | Braun S , et al. (2011) |
| Developmental profile | Mortality/lethality | Increased | General observations | Unreported | Roux JC , et al. (2011) |
| Developmental profile | NA | Not reported | NA | NA | Goffin D , et al. (2011) |
| Developmental profile | NA | Not reported | NA | NA | Fukuda T , et al. (2005) |
| Emotion | NA | Not reported | NA | NA | Braun S , et al. (2011) |
| Emotion | NA | Not reported | NA | NA | Roux JC , et al. (2011) |
| Emotion | Anxiety | Decreased | Elevated zero maze test | 9 weeks | Goffin D , et al. (2011) |
| Emotion | NA | Not reported | NA | NA | Fukuda T , et al. (2005) |
| Immune response | NA | Not reported | NA | NA | Braun S , et al. (2011) |
| Immune response | NA | Not reported | NA | NA | Roux JC , et al. (2011) |
| Immune response | NA | Not reported | NA | NA | Goffin D , et al. (2011) |
| Immune response | NA | Not reported | NA | NA | Fukuda T , et al. (2005) |
| Learning & memory | NA | Not reported | NA | NA | Braun S , et al. (2011) |
| Learning & memory | NA | Not reported | NA | NA | Roux JC , et al. (2011) |
| Learning & memory | Cued or contextual fear conditioning | Decreased | Fear conditioning test | 10 weeks | Goffin D , et al. (2011) |
| Learning & memory | NA | Not reported | NA | NA | Fukuda T , et al. (2005) |
| Maternal behavior | NA | Not reported | NA | NA | Braun S , et al. (2011) |
| Maternal behavior | NA | Not reported | NA | NA | Roux JC , et al. (2011) |
| Maternal behavior | NA | Not reported | NA | NA | Goffin D , et al. (2011) |
| Maternal behavior | NA | Not reported | NA | NA | Fukuda T , et al. (2005) |
| Molecular profile | NA | Not reported | NA | NA | Braun S , et al. (2011) |
| Molecular profile | Signaling | Decreased | Quantitative pcr (qrt-pcr) | 8 weeks | Roux JC , et al. (2011) |
| Molecular profile | Gene expression | No change | Quantitative pcr (qrt-pcr) | 4 weeks | Roux JC , et al. (2011) |
| Molecular profile | Gene expression | No change | Quantitative pcr (qrt-pcr) | 4 weeks | Roux JC , et al. (2011) |
| Molecular profile | Gene expression | No change | Quantitative pcr (qrt-pcr) | 7.5 weeks | Roux JC , et al. (2011) |
| Molecular profile | Gene expression | Decreased | Quantitative pcr (qrt-pcr) | 8 weeks | Roux JC , et al. (2011) |
| Molecular profile | Gene expression | Decreased | Quantitative pcr (qrt-pcr) | 8 weeks | Roux JC , et al. (2011) |
| Molecular profile | Gene expression | Abnormal | Gene expression microarray | 8 weeks | Roux JC , et al. (2011) |
| Molecular profile | Gene expression | Decreased | Quantitative pcr (qrt-pcr) | 8 weeks | Roux JC , et al. (2011) |
| Molecular profile | Gene expression | Decreased | Quantitative pcr (qrt-pcr) | 8 weeks | Roux JC , et al. (2011) |
| Molecular profile | NA | Not reported | NA | NA | Goffin D , et al. (2011) |
| Molecular profile | NA | Not reported | NA | NA | Fukuda T , et al. (2005) |
M_MECP2_5.2_KO_HE_CORTISONE-H
Model Type: Multifactorial
Model Genotype: Hemizygous
Mutation:
Targeted Cre-loxP mediated deletion of exons 3 and 4 of Mecp2 gene followed by administration of 100 microg/ml of corticosterone in drinking water from 3 weeks of age.
Allele Type: Knockout
Strain of Origin: Not specified
Genetic Background: C57BL/6
Es cell line: Not specified
Model Source: Not specified
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Braun S , et al. (2011) |
| Motor phenotype | Motor coordination and balance | Decreased | Accelerating rotarod test | 6-8 weeks | Braun S , et al. (2011) |
| Motor phenotype | General locomotor activity | Decreased | Open field test | 6-8 weeks | Braun S , et al. (2011) |
| Neuroanatomy / ultrastructure / cytoarchitecture | NA | Not reported | NA | NA | Braun S , et al. (2011) |
| Neurophysiology | NA | Not reported | NA | NA | Braun S , et al. (2011) |
| Repetitive behavior | NA | Not reported | NA | NA | Braun S , et al. (2011) |
| Seizure | NA | Not reported | NA | NA | Braun S , et al. (2011) |
| Sensory | NA | Not reported | NA | NA | Braun S , et al. (2011) |
| Social behavior | NA | Not reported | NA | NA | Braun S , et al. (2011) |
| Physiological parameters | NA | Not reported | NA | NA | Braun S , et al. (2011) |
| Communications | NA | Not reported | NA | NA | Braun S , et al. (2011) |
| Developmental profile | Mortality/lethality | Increased | General observations | 0-4.5 months | Braun S , et al. (2011) |
| Emotion | NA | Not reported | NA | NA | Braun S , et al. (2011) |
| Immune response | NA | Not reported | NA | NA | Braun S , et al. (2011) |
| Learning & memory | NA | Not reported | NA | NA | Braun S , et al. (2011) |
| Maternal behavior | NA | Not reported | NA | NA | Braun S , et al. (2011) |
| Molecular profile | NA | Not reported | NA | NA | Braun S , et al. (2011) |
M_MECP2_5.2_KO_HE_CORTISONE-L
Model Type: Multifactorial
Model Genotype: Hemizygous
Mutation:
Targeted Cre-loxP mediated deletion of exons 3 and 4 of Mecp2 gene followed by administration of 10 microg/ml of corticosterone in drinking water from 3 weeks of age.
Allele Type: Knockout
Strain of Origin: Not specified
Genetic Background: C57BL/6
Es cell line: Not specified
Model Source: Not specified
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Braun S , et al. (2011) |
| Motor phenotype | NA | Not reported | NA | NA | Braun S , et al. (2011) |
| Neuroanatomy / ultrastructure / cytoarchitecture | NA | Not reported | NA | NA | Braun S , et al. (2011) |
| Neurophysiology | NA | Not reported | NA | NA | Braun S , et al. (2011) |
| Repetitive behavior | NA | Not reported | NA | NA | Braun S , et al. (2011) |
| Seizure | NA | Not reported | NA | NA | Braun S , et al. (2011) |
| Sensory | NA | Not reported | NA | NA | Braun S , et al. (2011) |
| Social behavior | NA | Not reported | NA | NA | Braun S , et al. (2011) |
| Physiological parameters | NA | Not reported | NA | NA | Braun S , et al. (2011) |
| Communications | NA | Not reported | NA | NA | Braun S , et al. (2011) |
| Developmental profile | Mortality/lethality | Increased | General observations | 0-4.5 months | Braun S , et al. (2011) |
| Emotion | NA | Not reported | NA | NA | Braun S , et al. (2011) |
| Immune response | NA | Not reported | NA | NA | Braun S , et al. (2011) |
| Learning & memory | NA | Not reported | NA | NA | Braun S , et al. (2011) |
| Maternal behavior | NA | Not reported | NA | NA | Braun S , et al. (2011) |
| Molecular profile | NA | Not reported | NA | NA | Braun S , et al. (2011) |
M_MECP2_5.2_KO_HE_CYSTEAMINE
Model Type: RESCUE-Pharmaceutical
Model Genotype: Heterozygous
Mutation:
Targeted Cre-loxP mediated deletion of exons 3 and 4 of Mecp2 gene followed by administration of 225mg/kg/day of cysteamine in drinking water from P30.
Allele Type: Knockout
Strain of Origin: Not Specified
Genetic Background: C57BL/6
Es cell line: Not Specified
Model Source: Not Specified
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Roux JC , et al. (2011) |
| Motor phenotype | General locomotor activity | Restored | Open field test | Unreported | Roux JC , et al. (2011) |
| Neuroanatomy / ultrastructure / cytoarchitecture | NA | Not reported | NA | NA | Roux JC , et al. (2011) |
| Neurophysiology | NA | Not reported | NA | NA | Roux JC , et al. (2011) |
| Repetitive behavior | NA | Not reported | NA | NA | Roux JC , et al. (2011) |
| Seizure | NA | Not reported | NA | NA | Roux JC , et al. (2011) |
| Sensory | NA | Not reported | NA | NA | Roux JC , et al. (2011) |
| Social behavior | NA | Not reported | NA | NA | Roux JC , et al. (2011) |
| Physiological parameters | NA | Not reported | NA | NA | Roux JC , et al. (2011) |
| Communications | NA | Not reported | NA | NA | Roux JC , et al. (2011) |
| Developmental profile | Mortality/lethality | Restored | General observations | Unreported | Roux JC , et al. (2011) |
| Emotion | NA | Not reported | NA | NA | Roux JC , et al. (2011) |
| Immune response | NA | Not reported | NA | NA | Roux JC , et al. (2011) |
| Learning & memory | NA | Not reported | NA | NA | Roux JC , et al. (2011) |
| Maternal behavior | NA | Not reported | NA | NA | Roux JC , et al. (2011) |
| Molecular profile | NA | Not reported | NA | NA | Roux JC , et al. (2011) |
M_MECP2_5.2_KO_HE_RU486
Model Type: RESCUE-Pharmaceutical
Model Genotype: Hemizygous
Mutation:
Targeted Cre-loxP mediated deletion of exons 3 and 4 of Mecp2 gene followed by administration of 100 microg/ml of corticosterone in drinking water from 3 weeks of age.
Allele Type: Knockout
Strain of Origin: Not specified
Genetic Background: C57BL/6
Es cell line: Not specified
Model Source: Not specified
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Braun S , et al. (2011) |
| Motor phenotype | Motor coordination and balance | Restored | Accelerating rotarod test | 6-8 weeks | Braun S , et al. (2011) |
| Motor phenotype | General locomotor activity | Ameliorated | Open field test | 6-8 weeks | Braun S , et al. (2011) |
| Motor phenotype | Clasping reflex | Ameliorated | General observations | 0-14 weeks | Braun S , et al. (2011) |
| Neuroanatomy / ultrastructure / cytoarchitecture | NA | Not reported | NA | NA | Braun S , et al. (2011) |
| Neurophysiology | NA | Not reported | NA | NA | Braun S , et al. (2011) |
| Repetitive behavior | NA | Not reported | NA | NA | Braun S , et al. (2011) |
| Seizure | NA | Not reported | NA | NA | Braun S , et al. (2011) |
| Sensory | NA | Not reported | NA | NA | Braun S , et al. (2011) |
| Social behavior | NA | Not reported | NA | NA | Braun S , et al. (2011) |
| Physiological parameters | NA | Not reported | NA | NA | Braun S , et al. (2011) |
| Communications | NA | Not reported | NA | NA | Braun S , et al. (2011) |
| Developmental profile | Mortality/lethality | Refractory | General observations | 0-4.5 months | Braun S , et al. (2011) |
| Emotion | NA | Not reported | NA | NA | Braun S , et al. (2011) |
| Immune response | NA | Not reported | NA | NA | Braun S , et al. (2011) |
| Learning & memory | NA | Not reported | NA | NA | Braun S , et al. (2011) |
| Maternal behavior | NA | Not reported | NA | NA | Braun S , et al. (2011) |
| Molecular profile | NA | Not reported | NA | NA | Braun S , et al. (2011) |
M_MECP2_5.2_KO_HT_CORTISONE-H
Model Type: Multifactorial
Model Genotype: Hemizygous
Mutation:
Targeted Cre-loxP mediated deletion of exons 3 and 4 of Mecp2 gene followed by administration of 100 microg/ml of corticosterone in drinking water from 3 weeks of age.
Allele Type: Knockout
Strain of Origin: Not specified
Genetic Background: C57BL/6
Es cell line: Not specified
Model Source: Not specified
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Braun S , et al. (2011) |
| Motor phenotype | Clasping reflex | Increased | General observations | 0-7.5 months | Braun S , et al. (2011) |
| Neuroanatomy / ultrastructure / cytoarchitecture | NA | Not reported | NA | NA | Braun S , et al. (2011) |
| Neurophysiology | NA | Not reported | NA | NA | Braun S , et al. (2011) |
| Repetitive behavior | NA | Not reported | NA | NA | Braun S , et al. (2011) |
| Seizure | NA | Not reported | NA | NA | Braun S , et al. (2011) |
| Sensory | NA | Not reported | NA | NA | Braun S , et al. (2011) |
| Social behavior | NA | Not reported | NA | NA | Braun S , et al. (2011) |
| Physiological parameters | NA | Not reported | NA | NA | Braun S , et al. (2011) |
| Communications | NA | Not reported | NA | NA | Braun S , et al. (2011) |
| Developmental profile | Mortality/lethality | No change | General observations | 5.5 months | Braun S , et al. (2011) |
| Emotion | NA | Not reported | NA | NA | Braun S , et al. (2011) |
| Immune response | NA | Not reported | NA | NA | Braun S , et al. (2011) |
| Learning & memory | NA | Not reported | NA | NA | Braun S , et al. (2011) |
| Maternal behavior | NA | Not reported | NA | NA | Braun S , et al. (2011) |
| Molecular profile | Gene expression | Increased | Quantitative pcr (qrt-pcr) | 5 weeks | Braun S , et al. (2011) |
M_MECP2_5.2_KO_HT_CORTISONE-L
Model Type: Multifactorial
Model Genotype: Hemizygous
Mutation:
Targeted Cre-loxP mediated deletion of exons 3 and 4 of Mecp2 gene followed by administration of 10 microg/ml of corticosterone in drinking water from 3 weeks of age.
Allele Type: Knockout
Strain of Origin: Not specified
Genetic Background: C57BL/6
Es cell line: Not specified
Model Source: Not specified
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Braun S , et al. (2011) |
| Motor phenotype | Tremor | Increased | General observations | 0-10 months | Braun S , et al. (2011) |
| Motor phenotype | Clasping reflex | Increased | General observations | 0-7.5 months | Braun S , et al. (2011) |
| Neuroanatomy / ultrastructure / cytoarchitecture | NA | Not reported | NA | NA | Braun S , et al. (2011) |
| Neurophysiology | NA | Not reported | NA | NA | Braun S , et al. (2011) |
| Repetitive behavior | NA | Not reported | NA | NA | Braun S , et al. (2011) |
| Seizure | NA | Not reported | NA | NA | Braun S , et al. (2011) |
| Sensory | NA | Not reported | NA | NA | Braun S , et al. (2011) |
| Social behavior | NA | Not reported | NA | NA | Braun S , et al. (2011) |
| Physiological parameters | NA | Not reported | NA | NA | Braun S , et al. (2011) |
| Communications | NA | Not reported | NA | NA | Braun S , et al. (2011) |
| Developmental profile | Mortality/lethality | No change | General observations | 5.5 months | Braun S , et al. (2011) |
| Emotion | NA | Not reported | NA | NA | Braun S , et al. (2011) |
| Immune response | NA | Not reported | NA | NA | Braun S , et al. (2011) |
| Learning & memory | NA | Not reported | NA | NA | Braun S , et al. (2011) |
| Maternal behavior | NA | Not reported | NA | NA | Braun S , et al. (2011) |
| Molecular profile | NA | Not reported | NA | NA | Braun S , et al. (2011) |
M_MECP2_5.2_KO_HT_RU486
Model Type: RESCUE-Pharmaceutical
Model Genotype: Hemizygous
Mutation:
Targeted Cre-loxP mediated deletion of exons 3 and 4 of Mecp2 gene followed by administration of 42 microg/ml ofRU486 in drinking water from 3 weeks of age.
Allele Type: Knockout
Strain of Origin: Not specified
Genetic Background: C57BL/6
Es cell line: Not specified
Model Source: Not specified
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Braun S , et al. (2011) |
| Motor phenotype | Hypoactivity | Ameliorated | General observations | 0-10 months | Braun S , et al. (2011) |
| Motor phenotype | Clasping reflex | Ameliorated | General observations | 0-7.5 months | Braun S , et al. (2011) |
| Neuroanatomy / ultrastructure / cytoarchitecture | NA | Not reported | NA | NA | Braun S , et al. (2011) |
| Neurophysiology | NA | Not reported | NA | NA | Braun S , et al. (2011) |
| Repetitive behavior | NA | Not reported | NA | NA | Braun S , et al. (2011) |
| Seizure | NA | Not reported | NA | NA | Braun S , et al. (2011) |
| Sensory | NA | Not reported | NA | NA | Braun S , et al. (2011) |
| Social behavior | NA | Not reported | NA | NA | Braun S , et al. (2011) |
| Physiological parameters | NA | Not reported | NA | NA | Braun S , et al. (2011) |
| Communications | NA | Not reported | NA | NA | Braun S , et al. (2011) |
| Developmental profile | NA | Not reported | NA | NA | Braun S , et al. (2011) |
| Emotion | NA | Not reported | NA | NA | Braun S , et al. (2011) |
| Immune response | NA | Not reported | NA | NA | Braun S , et al. (2011) |
| Learning & memory | NA | Not reported | NA | NA | Braun S , et al. (2011) |
| Maternal behavior | NA | Not reported | NA | NA | Braun S , et al. (2011) |
| Molecular profile | Gene expression | Ameliorated | Quantitative pcr (qrt-pcr) | 5 weeks | Braun S , et al. (2011) |
M_MECP2_5.3_KO_HT
Model Type: Genetic
Model Genotype: Heterozygous
Mutation:
Targeted Cre-loxP mediated deletion of exons 3 and 4 of Mecp2 gene.
Allele Type: Knockout
Strain of Origin: Not specified
Genetic Background: FVB/N X 129S6/SvEv
Es cell line: Not specified
Model Source: Not Specified
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Motor phenotype | Motor coordination and balance | Decreased | Footslip test | 4 months | Samaco RC , et al. (2012) |
| Motor phenotype | General locomotor activity | No change | Open field test | 7 weeks | Samaco RC , et al. (2012) |
| Motor phenotype | General locomotor activity | Decreased | Open field test | 4 months | Samaco RC , et al. (2012) |
| Neuroanatomy / ultrastructure / cytoarchitecture | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Neurophysiology | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Repetitive behavior | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Seizure | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Sensory | Startle response: acoustic stimulus | Decreased | Startle response test | 7, 20 weeks | Samaco RC , et al. (2012) |
| Sensory | Sensorimotor gating | Increased | Prepulse inhibition | 7, 20 weeks | Samaco RC , et al. (2012) |
| Sensory | Pain or nociception | Decreased | Hot plate test | 5 months | Samaco RC , et al. (2012) |
| Sensory | Olfaction | No change | Olfactory discrimination test | 12 weeks | Samaco RC , et al. (2012) |
| Social behavior | Social approach | No change | Three-chamber social approach test | 12 weeks | Samaco RC , et al. (2012) |
| Social behavior | Social approach | Decreased | Three-chamber social approach test | 5 months | Samaco RC , et al. (2012) |
| Physiological parameters | Respiratory function | Abnormal | Respiration rate and pattern analysis | 7 weeks | Samaco RC , et al. (2012) |
| Physiological parameters | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Communications | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Developmental profile | Size/growth | Increased | General observations | 8-22 weeks | Samaco RC , et al. (2012) |
| Emotion | Anxiety | Decreased | Light-dark exploration test | 5 weeks | Samaco RC , et al. (2012) |
| Emotion | Anxiety | Decreased | Elevated plus maze test | 5 weeks | Samaco RC , et al. (2012) |
| Immune response | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Learning & memory | Cued or contextual fear conditioning: passive avoidance | Decreased | Passive avoidance test | 14 weeks | Samaco RC , et al. (2012) |
| Learning & memory | Cued or contextual fear conditioning: memory of context | Decreased | Fear conditioning test | 14 weeks | Samaco RC , et al. (2012) |
| Maternal behavior | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Molecular profile | Protein expression level evidence | Decreased | Quantitative pcr (qrt-pcr) | 5 months | Samaco RC , et al. (2012) |
M_MECP2_5.4_KO_HT
Model Type: Genetic
Model Genotype: Heterozygous
Mutation:
Targeted Cre-loxP mediated deletion of exons 3 and 4 of Mecp2 gene.
Allele Type: Knockout
Strain of Origin: Not specified
Genetic Background: 129S6/SvEv x C57BL/6
Es cell line: Not specified
Model Source: Not Specified
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Motor phenotype | Motor coordination and balance | Decreased | Footslip test | Unreported | Samaco RC , et al. (2012) |
| Motor phenotype | General locomotor activity | No change | Open field test | 7 weeks | Samaco RC , et al. (2012) |
| Motor phenotype | General locomotor activity | Decreased | Open field test | 4 months | Samaco RC , et al. (2012) |
| Neuroanatomy / ultrastructure / cytoarchitecture | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Neurophysiology | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Repetitive behavior | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Seizure | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Sensory | Startle response: acoustic stimulus | No change | Startle response test | 7 weeks | Samaco RC , et al. (2012) |
| Sensory | Startle response: acoustic stimulus | Decreased | Startle response test | 5 months | Samaco RC , et al. (2012) |
| Sensory | Sensorimotor gating | No change | Prepulse inhibition | 7, 20 weeks | Samaco RC , et al. (2012) |
| Sensory | Pain or nociception | Decreased | Hot plate test | 5.5 months | Samaco RC , et al. (2012) |
| Sensory | Olfaction | No change | Olfactory discrimination test | 12 weeks | Samaco RC , et al. (2012) |
| Social behavior | Social approach | Decreased | Three-chamber social approach test | 5.5 months | Samaco RC , et al. (2012) |
| Social behavior | Social approach | Decreased | Three-chamber social approach test | 12 weeks | Samaco RC , et al. (2012) |
| Physiological parameters | Respiratory function | Abnormal | Respiration rate and pattern analysis | 7 weeks | Samaco RC , et al. (2012) |
| Physiological parameters | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Physiological parameters | Hormone levels | Decreased | Quantitative pcr (qrt-pcr) | 5.5 months | Samaco RC , et al. (2012) |
| Communications | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Developmental profile | Size/growth | No change | General observations | 8-22 weeks | Samaco RC , et al. (2012) |
| Developmental profile | Size/growth | Increased | General observations | 12 months | Samaco RC , et al. (2012) |
| Emotion | Anxiety | Decreased | Light-dark exploration test | 5 weeks | Samaco RC , et al. (2012) |
| Emotion | Anxiety | Decreased | Elevated plus maze test | 5 weeks | Samaco RC , et al. (2012) |
| Immune response | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Learning & memory | Cued or contextual fear conditioning: passive avoidance | Decreased | Passive avoidance test | 14 weeks | Samaco RC , et al. (2012) |
| Learning & memory | Cued or contextual fear conditioning: memory of context | Decreased | Fear conditioning test | 14 weeks | Samaco RC , et al. (2012) |
| Maternal behavior | NA | Not reported | NA | NA | Samaco RC , et al. (2012) |
| Molecular profile | Protein expression level evidence | Decreased | Quantitative pcr (qrt-pcr) | 5.5 months | Samaco RC , et al. (2012) |
M_MECP2_5.5_CKO_HE_PVALBN
Model Type: Genetic
Model Genotype: Hemizygous
Mutation:
Conditional deletion of exon 3- 4 of Mecp2 in male mice using Pvalb-Cre, in parvalbumin expressing interneurons . Note that phenotypes of these mice are annotated in comparison to the homozygous floxed Mecp2 mice which express a truncated form of the protein
Allele Type: Conditional loss-of-function
Strain of Origin: C57Bl/6 * B6C3H
Genetic Background: -
Es cell line: -
Model Source: -
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Ito-Ishida A , et al. (2015) |
| Motor phenotype | Motor coordination and balance | Decreased | Marble-burying test | 6 weeks, 5 months, 2.5 months | Ito-Ishida A , et al. (2015) |
| Motor phenotype | Motor coordination and balance | Decreased | Dowel walk test | 6 weeks, 5 months, 2.5 months | Ito-Ishida A , et al. (2015) |
| Motor phenotype | General locomotor activity | No change | Open field test | 4.75 months | Ito-Ishida A , et al. (2015) |
| Motor phenotype | Clasping reflex | Increased | General observations | 5 months | Ito-Ishida A , et al. (2015) |
| Motor phenotype | Ataxia | Increased | Dowel walk test | 6 weeks, 5 months, 2.5 months | Ito-Ishida A , et al. (2015) |
| Motor phenotype | Ataxia | Increased | Accelerating rotarod test | 6 weeks, 5 months, 2.5 months | Ito-Ishida A , et al. (2015) |
| Neuroanatomy / ultrastructure / cytoarchitecture | NA | Not reported | NA | NA | Ito-Ishida A , et al. (2015) |
| Neurophysiology | NA | Not reported | NA | NA | Ito-Ishida A , et al. (2015) |
| Repetitive behavior | Repetitive nose pokes | No change | Hole-board test | 3 months | Ito-Ishida A , et al. (2015) |
| Repetitive behavior | Repetitive digging | Decreased | Marble-burying test | 5.2 months | Ito-Ishida A , et al. (2015) |
| Seizure | Seizures | No change | Observation of seizures | 3.7 - 10 months | Ito-Ishida A , et al. (2015) |
| Sensory | Startle response: acoustic stimulus | Decreased | Startle response test | 8 weeks | Ito-Ishida A , et al. (2015) |
| Sensory | Sensorimotor gating | No change | Prepulse inhibition | 8 weeks | Ito-Ishida A , et al. (2015) |
| Social behavior | Social interaction | Abnormal | Partition test | 3.5 months | Ito-Ishida A , et al. (2015) |
| Physiological parameters | NA | Not reported | NA | NA | Ito-Ishida A , et al. (2015) |
| Communications | NA | Not reported | NA | NA | Ito-Ishida A , et al. (2015) |
| Developmental profile | Size/growth | No change | Body weight measurement | 1-6 months | Ito-Ishida A , et al. (2015) |
| Developmental profile | Mortality/lethality | Increased | General observations | 7.5 months | Ito-Ishida A , et al. (2015) |
| Emotion | Anxiety | No change | Light-dark exploration test | 5 weeks | Ito-Ishida A , et al. (2015) |
| Emotion | Anxiety | No change | Elevated plus maze test | 5 weeks | Ito-Ishida A , et al. (2015) |
| Immune response | NA | Not reported | NA | NA | Ito-Ishida A , et al. (2015) |
| Learning & memory | Cued or contextual fear conditioning: memory of cue | Decreased | Fear conditioning test | 3.7 months | Ito-Ishida A , et al. (2015) |
| Maternal behavior | NA | Not reported | NA | NA | Ito-Ishida A , et al. (2015) |
| Molecular profile | Targeted expression | Decreased | Immunofluorescence staining | NA | Ito-Ishida A , et al. (2015) |
M_MECP2_5.6_CKO_HE_SSTN
Model Type: Genetic
Model Genotype: Hemizygous
Mutation:
Conditional deletion of exon 3-4 of Mecp2 in male mice using SOM-Cre, in somatostatin expressing interneurons. Note that phenotypes of these mice are annotated in comparison to the homozygous floxed Mecp2 mice which express a truncated form of the protein
Allele Type: Conditional loss-of-function
Strain of Origin: C57Bl/6*129
Genetic Background: -
Es cell line: -
Model Source: -
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Ito-Ishida A , et al. (2015) |
| Motor phenotype | Motor coordination and balance | No change | Accelerating rotarod test | 6 weeks, 5 months, 2.5 months | Ito-Ishida A , et al. (2015) |
| Motor phenotype | General locomotor activity | No change | Open field test | 4.75 months | Ito-Ishida A , et al. (2015) |
| Motor phenotype | Clasping reflex | Increased | General observations | 5 months | Ito-Ishida A , et al. (2015) |
| Motor phenotype | Ataxia | No change | General observations | 6 weeks, 5 months, 2.5 months | Ito-Ishida A , et al. (2015) |
| Neuroanatomy / ultrastructure / cytoarchitecture | NA | Not reported | NA | NA | Ito-Ishida A , et al. (2015) |
| Neurophysiology | NA | Not reported | NA | NA | Ito-Ishida A , et al. (2015) |
| Repetitive behavior | Repetitive nose pokes | Increased | Hole-board test | 3 months | Ito-Ishida A , et al. (2015) |
| Repetitive behavior | Repetitive digging | No change | Marble-burying test | 3 - 5 months | Ito-Ishida A , et al. (2015) |
| Seizure | Seizures | Increased | Observation of seizures | 3 - 10 months | Ito-Ishida A , et al. (2015) |
| Sensory | Startle response: acoustic stimulus | No change | Startle response test | 8 weeks | Ito-Ishida A , et al. (2015) |
| Sensory | Sensorimotor gating | No change | Prepulse inhibition | 8 weeks | Ito-Ishida A , et al. (2015) |
| Social behavior | Social interaction | No change | Partition test | 3.5 months | Ito-Ishida A , et al. (2015) |
| Physiological parameters | NA | Not reported | NA | NA | Ito-Ishida A , et al. (2015) |
| Communications | NA | Not reported | NA | NA | Ito-Ishida A , et al. (2015) |
| Developmental profile | Size/growth | No change | Body weight measurement | 1-6 months | Ito-Ishida A , et al. (2015) |
| Developmental profile | Mortality/lethality | Increased | Fear conditioning test | 7.5 months | Ito-Ishida A , et al. (2015) |
| Emotion | Anxiety | No change | Light-dark exploration test | 5 weeks | Ito-Ishida A , et al. (2015) |
| Emotion | Anxiety | No change | Elevated plus maze test | 5 weeks | Ito-Ishida A , et al. (2015) |
| Immune response | NA | Not reported | NA | NA | Ito-Ishida A , et al. (2015) |
| Learning & memory | Cued or contextual fear conditioning: memory of cue | No change | Fear conditioning test | 3.7 months | Ito-Ishida A , et al. (2015) |
| Maternal behavior | NA | Not reported | NA | NA | Ito-Ishida A , et al. (2015) |
| Molecular profile | Targeted expression | Decreased | Western blot | 6 weeks, 5 months, 2.5 months | Ito-Ishida A , et al. (2015) |
M_MECP2_5.7_CKO_HE
Model Type: Genetic
Model Genotype: Hemizygous
Mutation:
Conditional deletion of exon 3- 4 of the Mecp2 gene in male mice, using Dlx5/6-Cre, in gabaergic neurons of the forebrain and other brain regions
Allele Type: Conditional loss-of-function
Strain of Origin: Not Specified
Genetic Background: Not Specified
Es cell line: Not Specified
Model Source: Not Specified
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Chao HT , et al. (2010) |
| Motor phenotype | Motor coordination and balance | Abnormal | Footslip test | 5 weeks | Chao HT , et al. (2010) |
| Motor phenotype | Motor coordination and balance | Abnormal | Dowel walk test | 9 weeks | Chao HT , et al. (2010) |
| Motor phenotype | Motor coordination and balance | Abnormal | Accelerating rotarod test | 19 weeks | Chao HT , et al. (2010) |
| Neuroanatomy / ultrastructure / cytoarchitecture | NA | Not reported | NA | NA | Chao HT , et al. (2010) |
| Neurophysiology | NA | Not reported | NA | NA | Chao HT , et al. (2010) |
| Repetitive behavior | Stereotypy | Increased | General observations | Unreported | Chao HT , et al. (2010) |
| Repetitive behavior | Head bobbing | Increased | Hole-board test | Unreported | Chao HT , et al. (2010) |
| Seizure | NA | Not reported | NA | NA | Chao HT , et al. (2010) |
| Sensory | Startle response: acoustic stimulus | Decreased | Startle response test | 8 weeks | Chao HT , et al. (2010) |
| Sensory | Sensorimotor gating | Increased | Prepulse inhibition | 8 weeks | Chao HT , et al. (2010) |
| Social behavior | Social interaction | Increased | Partition test | 12-13 weeks | Chao HT , et al. (2010) |
| Physiological parameters | NA | Not reported | NA | NA | Chao HT , et al. (2010) |
| Communications | NA | Not reported | NA | NA | Chao HT , et al. (2010) |
| Developmental profile | Mortality/lethality | No change | General observations | 18 months | Chao HT , et al. (2010) |
| Emotion | NA | Not reported | NA | NA | Chao HT , et al. (2010) |
| Immune response | NA | Not reported | NA | NA | Chao HT , et al. (2010) |
| Learning & memory | NA | Not reported | NA | NA | Chao HT , et al. (2010) |
| Maternal behavior | NA | Not reported | NA | NA | Chao HT , et al. (2010) |
| Molecular profile | NA | Not reported | NA | NA | Chao HT , et al. (2010) |
M_MECP2_5.8_CKO_HE
Model Type: Genetic
Model Genotype: Hemizygous
Mutation:
Conditional deletion of exons 3-4 of Mecp2 gene in male mice, using CamkII-cre, in excitatory neurons of the forebrain
Allele Type: Conditional loss-of-function
Strain of Origin: Not Specified
Genetic Background: Not Specified
Es cell line: Not Specified
Model Source: Not Specified
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Chao HT , et al. (2010) |
| Motor phenotype | NA | Not reported | NA | NA | Chao HT , et al. (2010) |
| Neuroanatomy / ultrastructure / cytoarchitecture | NA | Not reported | NA | NA | Chao HT , et al. (2010) |
| Neurophysiology | NA | Not reported | NA | NA | Chao HT , et al. (2010) |
| Repetitive behavior | NA | Not reported | NA | NA | Chao HT , et al. (2010) |
| Seizure | NA | Not reported | NA | NA | Chao HT , et al. (2010) |
| Sensory | NA | Not reported | NA | NA | Chao HT , et al. (2010) |
| Social behavior | NA | Not reported | NA | NA | Chao HT , et al. (2010) |
| Physiological parameters | NA | Not reported | NA | NA | Chao HT , et al. (2010) |
| Communications | NA | Not reported | NA | NA | Chao HT , et al. (2010) |
| Developmental profile | NA | Not reported | NA | NA | Chao HT , et al. (2010) |
| Emotion | NA | Not reported | NA | NA | Chao HT , et al. (2010) |
| Immune response | NA | Not reported | NA | NA | Chao HT , et al. (2010) |
| Learning & memory | NA | Not reported | NA | NA | Chao HT , et al. (2010) |
| Maternal behavior | NA | Not reported | NA | NA | Chao HT , et al. (2010) |
| Molecular profile | Gene expression | No change | Quantitative pcr (qrt-pcr) | Unreported | Chao HT , et al. (2010) |
M_MECP2_5.9_CKO_HE
Model Type: Genetic
Model Genotype: Hemizygous
Mutation:
Conditional deletion of exon 3- 4 of the Mecp2 gene in male mice, using Viaat-cre in GABAergic neurons in the CNS
Allele Type: Conditional loss-of-function
Strain of Origin: Not Specified
Genetic Background: Not Specified
Es cell line: Not Specified
Model Source: Not Specified
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Chao HT , et al. (2010) |
| Motor phenotype | Self grooming: home cage/familiar environment | Increased | General observations | Unreported | Chao HT , et al. (2010) |
| Motor phenotype | Motor coordination and balance | Abnormal | Footslip test | 5 weeks | Chao HT , et al. (2010) |
| Motor phenotype | Motor coordination and balance | Abnormal | Dowel walk test | 9 weeks | Chao HT , et al. (2010) |
| Motor phenotype | Motor coordination and balance | Abnormal | Accelerating rotarod test | 19 weeks | Chao HT , et al. (2010) |
| Motor phenotype | Grip strength | Decreased | Wire hang test | 9 weeks | Chao HT , et al. (2010) |
| Motor phenotype | General locomotor activity | Decreased | Open field test | 12-19 weeks | Chao HT , et al. (2010) |
| Neuroanatomy / ultrastructure / cytoarchitecture | NA | Not reported | NA | NA | Chao HT , et al. (2010) |
| Neurophysiology | Synaptic transmission | Decreased | Whole-cell patch clamp | Unreported | Chao HT , et al. (2010) |
| Neurophysiology | Synaptic plasticity: hippocampal ltp | Decreased | Long term potentiation (ltp) | Unreported | Chao HT , et al. (2010) |
| Neurophysiology | Presynaptic function: paired-pulse facilitation | No change | Paired-pulse ratio | Unreported | Chao HT , et al. (2010) |
| Neurophysiology | Neurotransmitter release | Decreased | Immunohistochemistry | 15-17 weeks | Chao HT , et al. (2010) |
| Repetitive behavior | Stereotypy | Increased | General observations | Unreported | Chao HT , et al. (2010) |
| Repetitive behavior | Head bobbing | Increased | Hole-board test | Unreported | Chao HT , et al. (2010) |
| Seizure | Seizures | Abnormal | Electroencephalogram (eeg) | 9 weeks | Chao HT , et al. (2010) |
| Sensory | Startle response: acoustic stimulus | Decreased | Startle response test | 8 weeks | Chao HT , et al. (2010) |
| Sensory | Sensorimotor gating | Increased | Prepulse inhibition | 8 weeks | Chao HT , et al. (2010) |
| Social behavior | Social scent marking or recognition | No change | Olfactory habituation-dishabituation test | Unreported | Chao HT , et al. (2010) |
| Social behavior | Social interaction | Increased | Partition test | 12-13 weeks | Chao HT , et al. (2010) |
| Social behavior | Social approach | No change | Three-chamber social approach test | 11-12 weeks | Chao HT , et al. (2010) |
| Social behavior | Nest building behavior | Decreased | General observations | 13 weeks | Chao HT , et al. (2010) |
| Physiological parameters | NA | Not reported | NA | NA | Chao HT , et al. (2010) |
| Communications | NA | Not reported | NA | NA | Chao HT , et al. (2010) |
| Developmental profile | Mortality/lethality | Increased | Survival analysis | 6.5 months | Chao HT , et al. (2010) |
| Emotion | Anxiety | No change | Open field test | Unreported | Chao HT , et al. (2010) |
| Immune response | NA | Not reported | NA | NA | Chao HT , et al. (2010) |
| Learning & memory | Spatial reference memory | Decreased | Morris water maze test | 11 weeks | Chao HT , et al. (2010) |
| Learning & memory | Olfactory learning and memory | Increased | Olfactory habituation-dishabituation test | Unreported | Chao HT , et al. (2010) |
| Maternal behavior | NA | Not reported | NA | NA | Chao HT , et al. (2010) |
| Molecular profile | Gene expression | Decreased | Quantitative pcr (qrt-pcr) | Unreported | Chao HT , et al. (2010) |
M_MECP2_50_KI_HE_STOP
Model Type: Genetic
Model Genotype: Homozygous
Mutation:
Mecp2 dNIC STOP knockin mice are functionally knockouts due to the insertion of a floxed transcriptional STOP cassette in intron 2 of the Mecp2 dNIC gene.
Allele Type: Knockout
Strain of Origin: -
Genetic Background: C57BL/6J
Es cell line: 129/Ola E14 TG2a
Model Source: -
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Tillotson R , et al. (2017) |
| Motor phenotype | Tremor | Increased | General observations | 4-28 weeks | Tillotson R , et al. (2017) |
| Motor phenotype | Limb posture | Abnormal | General observations | 4-28 weeks | Tillotson R , et al. (2017) |
| Motor phenotype | General locomotor activity | Abnormal | General observations | 4-28 weeks | Tillotson R , et al. (2017) |
| Motor phenotype | Gait | Abnormal | General observations | 4-28 weeks | Tillotson R , et al. (2017) |
| Neuroanatomy / ultrastructure / cytoarchitecture | NA | Not reported | NA | NA | Tillotson R , et al. (2017) |
| Neurophysiology | NA | Not reported | NA | NA | Tillotson R , et al. (2017) |
| Repetitive behavior | NA | Not reported | NA | NA | Tillotson R , et al. (2017) |
| Seizure | NA | Not reported | NA | NA | Tillotson R , et al. (2017) |
| Sensory | NA | Not reported | NA | NA | Tillotson R , et al. (2017) |
| Social behavior | NA | Not reported | NA | NA | Tillotson R , et al. (2017) |
| Physiological parameters | NA | Not reported | NA | NA | Tillotson R , et al. (2017) |
| Communications | NA | Not reported | NA | NA | Tillotson R , et al. (2017) |
| Developmental profile | Mortality/lethality | Increased | General observations | 0-28 weeks | Tillotson R , et al. (2017) |
| Emotion | NA | Not reported | NA | NA | Tillotson R , et al. (2017) |
| Immune response | NA | Not reported | NA | NA | Tillotson R , et al. (2017) |
| Learning & memory | NA | Not reported | NA | NA | Tillotson R , et al. (2017) |
| Maternal behavior | NA | Not reported | NA | NA | Tillotson R , et al. (2017) |
| Molecular profile | Targeted expression | Decreased | Flow cytometric analysis | 28 weeks | Tillotson R , et al. (2017) |
M_MECP2_50_KI_HE_STOP_REINSTATE-DNIC
Model Type: RESCUE-Genetic
Model Genotype: Homozygous
Mutation:
Mecp2 dNIC STOP mice with insertion of a floxed transcriptional STOP cassette in intron 2 of the Mecp2 dNIC gene. Mice are carrying inducible cre-ERt. Treatment with tamoxifen induces cre-ERt expression and results in the removal of the STOP cassette and expression of Mecp2 dNIC. Individuals were given a series of tamoxifen injections: one at 6 weeks of age, one at 7 weeks of age, and five daily injections at 8 weeks of age, each at a dose of 100 g/g (body weight).
Allele Type: Knockout
Strain of Origin: -
Genetic Background: C57BL/6J
Es cell line: 129/Ola E14 TG2a
Model Source: -
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Tillotson R , et al. (2017) |
| Motor phenotype | Tremor | Ameliorated | General observations | 4-28 weeks | Tillotson R , et al. (2017) |
| Motor phenotype | Limb posture | Ameliorated | General observations | 4-28 weeks | Tillotson R , et al. (2017) |
| Motor phenotype | General locomotor activity | Ameliorated | General observations | 4-28 weeks | Tillotson R , et al. (2017) |
| Motor phenotype | Gait | Ameliorated | General observations | 4-28 weeks | Tillotson R , et al. (2017) |
| Neuroanatomy / ultrastructure / cytoarchitecture | NA | Not reported | NA | NA | Tillotson R , et al. (2017) |
| Neurophysiology | NA | Not reported | NA | NA | Tillotson R , et al. (2017) |
| Repetitive behavior | NA | Not reported | NA | NA | Tillotson R , et al. (2017) |
| Seizure | NA | Not reported | NA | NA | Tillotson R , et al. (2017) |
| Sensory | NA | Not reported | NA | NA | Tillotson R , et al. (2017) |
| Social behavior | NA | Not reported | NA | NA | Tillotson R , et al. (2017) |
| Physiological parameters | NA | Not reported | NA | NA | Tillotson R , et al. (2017) |
| Communications | NA | Not reported | NA | NA | Tillotson R , et al. (2017) |
| Developmental profile | Mortality/lethality | Restored | General observations | 0-28 weeks | Tillotson R , et al. (2017) |
| Emotion | NA | Not reported | NA | NA | Tillotson R , et al. (2017) |
| Immune response | NA | Not reported | NA | NA | Tillotson R , et al. (2017) |
| Learning & memory | NA | Not reported | NA | NA | Tillotson R , et al. (2017) |
| Maternal behavior | NA | Not reported | NA | NA | Tillotson R , et al. (2017) |
| Molecular profile | NA | Not reported | NA | NA | Tillotson R , et al. (2017) |
M_MECP2_51_CKO_HT
Model Type: Genetic
Model Genotype: Heterozygous
Mutation:
Heterozygous mutant female mice with sensory neuron specific deletion of Mecp2 were generated by crossing Mecp2 floxed mice with loxp sites flanking exons 3 to 4 with Advillin-Cre driver mice (Advillin-Cre; Mecp2f/+); M_MECP2_5.15_CKO_HT
Allele Type: Conditional knockout
Strain of Origin: Not specified
Genetic Background: C57BL/6J*129/SvEv*CD1
Es cell line: -
Model Source: Jackson Laboratory; RRID:IMSR_JAX:006847; Fan Wang; RRID:IMSR_JAX:032536
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Motor phenotype | General locomotor activity: ambulatory activity | Decreased | Open field test | 6-8 weeks | Orefice LL , et al. (2019) |
| Motor phenotype | General locomotor activity | No change | Elevated plus maze test | 6-8 weeks | Orefice LL , et al. (2019) |
| Neuroanatomy / ultrastructure / cytoarchitecture | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Neurophysiology | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Repetitive behavior | Repetitive digging | No change | Marble-burying test | 6-8 weeks | Orefice LL , et al. (2019) |
| Seizure | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Sensory | Tactile memory | Decreased | Textured novel object recognition test (t-nort) | 6-8 weeks | Orefice LL , et al. (2019) |
| Sensory | Startle response: acoustic stimulus | No change | Acoustic startle reflex test | 6-8 weeks | Orefice LL , et al. (2019) |
| Sensory | Sensorimotor gating: tactile cue | Increased | Response to air puff | 6-8 weeks | Orefice LL , et al. (2019) |
| Sensory | Sensorimotor gating: tactile cue | Increased | Prepulse inhibition | 6-8 weeks | Orefice LL , et al. (2019) |
| Sensory | Sensorimotor gating | No change | Prepulse inhibition | 6-8 weeks | Orefice LL , et al. (2019) |
| Social behavior | Social memory | Decreased | Three-chamber social approach test | 6-8 weeks | Orefice LL , et al. (2019) |
| Social behavior | Social approach | Decreased | Three-chamber social approach test | 6-8 weeks | Orefice LL , et al. (2019) |
| Physiological parameters | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Communications | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Developmental profile | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Emotion | Habituation to aversive stimuli | Decreased | Prepulse inhibition | 6-8 weeks | Orefice LL , et al. (2019) |
| Emotion | Exploratory activity | No change | Novel object recognition test | 6-8 weeks | Orefice LL , et al. (2019) |
| Emotion | Anxiety | Increased | Elevated plus maze test | 6-8 weeks | Orefice LL , et al. (2019) |
| Emotion | Anxiety | Increased | Open field test | 6-8 weeks | Orefice LL , et al. (2019) |
| Immune response | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Learning & memory | Object recognition memory: long-term recall | No change | Novel object recognition test | 6-8 weeks | Orefice LL , et al. (2019) |
| Maternal behavior | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Molecular profile | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
M_MECP2_52_CKO_HE
Model Type: Genetic
Model Genotype: Hemizygous
Mutation:
Hemizygous mutant male mice with sensory neuron specific deletion of Mecp2 were generated by crossing Mecp2 floxed mice with loxp sites flanking exons 3 to 4 with Advillin-Cre driver mice (Advillin-Cre; Mecp2f/y); M_MECP2_5.15_CKO_HE
Allele Type: Conditional knockout
Strain of Origin: Not specified
Genetic Background: C57BL/6J*129/SvEv*CD1
Es cell line: -
Model Source: Jackson Laboratory; RRID:IMSR_JAX:006847; Fan Wang; RRID:IMSR_JAX:032536
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Motor phenotype | General locomotor activity: ambulatory activity | Decreased | Open field test | 6-8 weeks | Orefice LL , et al. (2019) |
| Motor phenotype | General locomotor activity | No change | Elevated plus maze test | 6-8 weeks | Orefice LL , et al. (2019) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Neuroreceptor levels: gaba-r: gabaa | Decreased | Immunohistochemistry | Adult | Orefice LL , et al. (2019) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Neuronal number: interneurons | Increased | Immunohistochemistry | Adult | Orefice LL , et al. (2019) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Morphology of the spinal cord: sensory and motor tracts | Decreased | Immunohistochemistry | Adult | Orefice LL , et al. (2019) |
| Neurophysiology | Spontaneous post synaptic event frequency: inhibitory currents | Increased | Whole-cell patch clamp | Adult | Orefice LL , et al. (2019) |
| Neurophysiology | Spontaneous post synaptic event frequency: excitatory currents | No change | Whole-cell patch clamp | Adult | Orefice LL , et al. (2019) |
| Neurophysiology | Spontaneous post synaptic event amplitude: inhibitory currents | No change | Whole-cell patch clamp | Adult | Orefice LL , et al. (2019) |
| Neurophysiology | Spontaneous post synaptic event amplitude: excitatory currents | No change | Whole-cell patch clamp | Adult | Orefice LL , et al. (2019) |
| Repetitive behavior | Self grooming: perseveration | No change | Open field test | 6-8 weeks | Orefice LL , et al. (2019) |
| Repetitive behavior | Repetitive digging | Decreased | Marble-burying test | 6-8 weeks | Orefice LL , et al. (2019) |
| Seizure | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Sensory | Tactile memory | Decreased | Textured novel object recognition test (t-nort) | 6-8 weeks | Orefice LL , et al. (2019) |
| Sensory | Startle response: acoustic stimulus | No change | Acoustic startle reflex test | 6-8 weeks | Orefice LL , et al. (2019) |
| Sensory | Sensorimotor gating: tactile cue | Increased | Response to air puff | 6-8 weeks | Orefice LL , et al. (2019) |
| Sensory | Sensorimotor gating: tactile cue | Increased | Prepulse inhibition | 6-8 weeks | Orefice LL , et al. (2019) |
| Sensory | Sensorimotor gating | No change | Prepulse inhibition | 6-8 weeks | Orefice LL , et al. (2019) |
| Social behavior | Social memory | Decreased | Three-chamber social approach test | 6-8 weeks | Orefice LL , et al. (2019) |
| Social behavior | Social approach | Decreased | Three-chamber social approach test | 6-8 weeks | Orefice LL , et al. (2019) |
| Physiological parameters | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Communications | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Developmental profile | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Emotion | Habituation to aversive stimuli | Decreased | Prepulse inhibition | 6-8 weeks | Orefice LL , et al. (2019) |
| Emotion | Exploratory activity | No change | Novel object recognition test | 6-8 weeks | Orefice LL , et al. (2019) |
| Emotion | Anxiety | Increased | Elevated plus maze test | 6-8 weeks | Orefice LL , et al. (2019) |
| Emotion | Anxiety | Increased | Open field test | 6-8 weeks | Orefice LL , et al. (2019) |
| Immune response | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Learning & memory | Object recognition memory: long-term recall | No change | Novel object recognition test | 6-8 weeks | Orefice LL , et al. (2019) |
| Maternal behavior | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Molecular profile | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
M_MECP2_52_CKO_HE_ISOGUVACINE
Model Type: RESCUE-Pharmaceutical
Model Genotype: Hemizygous
Mutation:
Isoguvacine is a potent and selective agonist for the GABAAR that does not cross the blood brain barrier and so is a peripherally restricted GABAAR agonist. Isoguvacine, 2 mg/kg, i.p., was administered beginning at a young age to test if it ameliorated tactile hypersensitivity in ASD models with fewer adverse effects than brain-penetrating benzodiazepines such as midazolam, including sedation and cognitive impairment, which are attributed to a CNS site of drug action.
Allele Type: Conditional knockout
Strain of Origin: Not specified
Genetic Background: C57BL/6J*129/SvEv*CD1
Es cell line: -
Model Source: Jackson Laboratory; RRID:IMSR_JAX:006847; Fan Wang; RRID:IMSR_JAX:032536
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | Sleep pattern | No adverse effect | General observations | 6 weeks | Orefice LL , et al. (2019) |
| Motor phenotype | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Neuroanatomy / ultrastructure / cytoarchitecture | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Neurophysiology | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Repetitive behavior | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Seizure | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Sensory | Startle response: acoustic stimulus | No adverse effect | Acoustic startle reflex test | 6 weeks | Orefice LL , et al. (2019) |
| Sensory | Sensorimotor gating: tactile cue | Restored | Response to air puff | 6 weeks | Orefice LL , et al. (2019) |
| Sensory | Sensorimotor gating: tactile cue | Restored | Prepulse inhibition | 6 weeks | Orefice LL , et al. (2019) |
| Social behavior | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Physiological parameters | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Communications | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Developmental profile | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Emotion | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Immune response | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Learning & memory | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Maternal behavior | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Molecular profile | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
M_MECP2_52_CKO_HE_MIDAZOLAM
Model Type: RESCUE-Pharmaceutical
Model Genotype: Hemizygous
Mutation:
Advillin-Cre; Mecp2^f/y mice were intraperitoneally injected 2mg/kg midazolam (Henry Schein, cat # 054788), a benzodiazepine, which are positive allosteric modulators of GABAARs, to test attenuation of hairy skin over-reactivity in Mecp2 mutant mice.Control mice were injected saline.
Allele Type: Conditional knockout
Strain of Origin: Not specified
Genetic Background: C57BL/6J*129/SvEv*CD1
Es cell line: -
Model Source: Jackson Laboratory; RRID:IMSR_JAX:006847; Fan Wang; RRID:IMSR_JAX:032536
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | Sleep pattern | Side effect | General observations | 6 weeks | Orefice LL , et al. (2019) |
| Motor phenotype | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Neuroanatomy / ultrastructure / cytoarchitecture | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Neurophysiology | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Repetitive behavior | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Seizure | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Sensory | Startle response: acoustic stimulus | Ameliorated | Acoustic startle reflex test | 6 weeks | Orefice LL , et al. (2019) |
| Sensory | Sensorimotor gating: tactile cue | Ameliorated | Response to air puff | 6 weeks | Orefice LL , et al. (2019) |
| Sensory | Sensorimotor gating: tactile cue | Ameliorated | Prepulse inhibition | 6 weeks | Orefice LL , et al. (2019) |
| Social behavior | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Physiological parameters | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Communications | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Developmental profile | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Emotion | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Immune response | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Learning & memory | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Maternal behavior | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Molecular profile | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
M_MECP2_53_KO_HE
Model Type: Genetic
Model Genotype: Hemizygous
Mutation:
Mecp2^STOP/y mice possess a loxP-flanked STOP cassette in intron 2 of the Mecp2 gene on the X chromosome resulting in the absence of wildtype protein; M_MECP2_40_KI_HE_STOP
Allele Type: Knockout
Strain of Origin: Not specified
Genetic Background: C57BL/6J*129/SvEv*CD1
Es cell line: -
Model Source: Jackson Laboratory; RRID:IMSR_JAX:006849
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Motor phenotype | General locomotor activity: ambulatory activity | Decreased | Open field test | 6-8 weeks | Orefice LL , et al. (2019) |
| Motor phenotype | General locomotor activity | No change | Elevated plus maze test | 6-8 weeks | Orefice LL , et al. (2019) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Neuronal number: interneurons | Abnormal | Immunohistochemistry | Adult | Orefice LL , et al. (2019) |
| Neurophysiology | Intrinsic membrane properties | Increased | Whole-cell current clamp | Adult | Orefice LL , et al. (2019) |
| Neurophysiology | Action potential property: firing rate | No change | Whole-cell voltage clamp | Adult | Orefice LL , et al. (2019) |
| Repetitive behavior | Repetitive digging | Decreased | Marble-burying test | 6-8 weeks | Orefice LL , et al. (2019) |
| Seizure | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Sensory | Tactile memory | Decreased | Textured novel object recognition test (t-nort) | 6 weeks | Orefice LL , et al. (2019) |
| Sensory | Startle response: acoustic stimulus | Decreased | Acoustic startle reflex test | 6 weeks | Orefice LL , et al. (2019) |
| Sensory | Sensorimotor gating: tactile cue | Increased | Response to air puff | 6 weeks | Orefice LL , et al. (2019) |
| Sensory | Sensorimotor gating | Increased | Prepulse inhibition | 6 weeks | Orefice LL , et al. (2019) |
| Social behavior | Social memory | Decreased | Three-chamber social approach test | 6 weeks | Orefice LL , et al. (2019) |
| Social behavior | Social approach | Decreased | Three-chamber social approach test | 6 weeks | Orefice LL , et al. (2019) |
| Physiological parameters | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Communications | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Developmental profile | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Emotion | Habituation to aversive stimuli | Decreased | Prepulse inhibition | 6-8 weeks | Orefice LL , et al. (2019) |
| Emotion | Exploratory activity | No change | Novel object recognition test | 6 weeks | Orefice LL , et al. (2019) |
| Emotion | Anxiety | Increased | Elevated plus maze test | 6 weeks | Orefice LL , et al. (2019) |
| Emotion | Anxiety | Increased | Open field test | 6 weeks | Orefice LL , et al. (2019) |
| Immune response | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Learning & memory | Object recognition memory: long-term recall | Decreased | Novel object recognition test | 6 weeks | Orefice LL , et al. (2019) |
| Maternal behavior | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Molecular profile | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
M_MECP2_53_KO_HE_REINSTATEMENT-ADVILLIN
Model Type: RESCUE-Genetic
Model Genotype: Hemizygous
Mutation:
Mecp2^STOP/y; Advillin-Cre mice are generated by crossing mice possessing loxP-flanked STOP cassette in intron 2 of the Mecp2 gene on the X chromosome with Advillin-Cre mice to reinstate the expression of Mecp2 in all DRG, trigeminal, and sympathetic ganglia neurons.
Allele Type: Knockout
Strain of Origin: Not specified
Genetic Background: C57BL/6J*129/SvEv*CD1
Es cell line: -
Model Source: Jackson Laboratory; RRID:IMSR_JAX:006849
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Motor phenotype | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Neuronal number: interneurons | Restored | Immunohistochemistry | Adult | Orefice LL , et al. (2019) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Neuronal number: interneurons | Refractory | Immunohistochemistry | Adult | Orefice LL , et al. (2019) |
| Neurophysiology | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Repetitive behavior | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Seizure | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Sensory | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Social behavior | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Physiological parameters | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Communications | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Developmental profile | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Emotion | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Immune response | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Learning & memory | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Maternal behavior | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Molecular profile | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
M_MECP2_53_KO_HE_REINSTATEMENT-ADVILLIN-ICRE-1
Model Type: RESCUE-Genetic
Model Genotype: Hemizygous
Mutation:
Advillin-CreERT2; Mecp2^STOP/y mice are generated by crossing mice possessing loxP-flanked STOP cassette in intron 2 of the Mecp2 gene on the X chromosome with transgenic Advillin-CreERT2 driver mice that express a tamoxifen-inducible iCre recombinase directed by endogenous Avil (advillin) promoter elements in the dorsal root ganglia and sensory neurons. Mice were treated with tamoxifen between P28 and P33.
Allele Type: Knockout
Strain of Origin: Not specified
Genetic Background: C57BL/6J*129/SvEv*CD1
Es cell line: -
Model Source: Jackson Laboratory; RRID:IMSR_JAX:006849
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Motor phenotype | General locomotor activity: ambulatory activity | Refractory | Open field test | 6 weeks | Orefice LL , et al. (2019) |
| Motor phenotype | General locomotor activity | No adverse effect | Elevated plus maze test | 6-8 weeks | Orefice LL , et al. (2019) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Neuronal number: interneurons | Refractory | Immunohistochemistry | 6 weeks | Orefice LL , et al. (2019) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Neuronal number: interneurons | Restored | Immunohistochemistry | 6 weeks | Orefice LL , et al. (2019) |
| Neurophysiology | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Repetitive behavior | Repetitive digging | Refractory | Marble-burying test | 6-8 weeks | Orefice LL , et al. (2019) |
| Seizure | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Sensory | Tactile memory | Refractory | Textured novel object recognition test (t-nort) | 6 weeks | Orefice LL , et al. (2019) |
| Sensory | Startle response: acoustic stimulus | Refractory | Acoustic startle reflex test | 6 weeks | Orefice LL , et al. (2019) |
| Sensory | Sensorimotor gating: tactile cue | Restored | Prepulse inhibition | 6 weeks | Orefice LL , et al. (2019) |
| Sensory | Sensorimotor gating: tactile cue | Restored | Response to air puff | 6 weeks | Orefice LL , et al. (2019) |
| Sensory | Sensorimotor gating | Refractory | Prepulse inhibition | 6 weeks | Orefice LL , et al. (2019) |
| Social behavior | Social memory | Refractory | Three-chamber social approach test | 6 weeks | Orefice LL , et al. (2019) |
| Social behavior | Social approach | Restored | Three-chamber social approach test | 6 weeks | Orefice LL , et al. (2019) |
| Physiological parameters | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Communications | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Developmental profile | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Emotion | Habituation to aversive stimuli | Refractory | Prepulse inhibition | 6-8 weeks | Orefice LL , et al. (2019) |
| Emotion | Exploratory activity | No adverse effect | Novel object recognition test | 6 weeks | Orefice LL , et al. (2019) |
| Emotion | Anxiety | Refractory | Elevated plus maze test | 6 weeks | Orefice LL , et al. (2019) |
| Emotion | Anxiety | Refractory | Open field test | 6 weeks | Orefice LL , et al. (2019) |
| Immune response | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Learning & memory | Object recognition memory: long-term recall | Refractory | Novel object recognition test | 6 weeks | Orefice LL , et al. (2019) |
| Maternal behavior | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Molecular profile | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
M_MECP2_54_CKO_HE
Model Type: Genetic
Model Genotype: Hemizygous
Mutation:
Hemizygous mutant male mice with sensory neuron specific inducible deletion of Mecp2 (Advillin-CreERT2; Mecp2^f/y) in the early postnatal period (P5) were generated by crossing Mecp2 floxed mice with loxp sites flanking exons 3 to 4 with transgenic Advillin-CreERT2 driver mice that expresse a tamoxifen-inducible iCre recombinase directed by endogenous Avil (advillin) promoter elements in the dorsal root ganglia and sensory neurons; M_MECP2_5.13_CKO_HE
Allele Type: Conditional knockout
Strain of Origin: Not specified
Genetic Background: C57BL/6J*129/SvEv*CD1
Es cell line: -
Model Source: Jackson Laboratory; John Wood; RRID:IMSR_JAX:032027 (Lau et al, 2011); RRID:IMSR_JAX:006847
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Motor phenotype | General locomotor activity: ambulatory activity | Decreased | Open field test | 6-8 weeks | Orefice LL , et al. (2019) |
| Motor phenotype | General locomotor activity | No change | Elevated plus maze test | 6-8 weeks | Orefice LL , et al. (2019) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Neuronal number: interneurons | Abnormal | Immunohistochemistry | 6 weeks | Orefice LL , et al. (2019) |
| Neurophysiology | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Repetitive behavior | Repetitive digging | Decreased | Marble-burying test | 6-8 weeks | Orefice LL , et al. (2019) |
| Seizure | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Sensory | Tactile memory | Decreased | Textured novel object recognition test (t-nort) | 6 weeks | Orefice LL , et al. (2019) |
| Sensory | Startle response: acoustic stimulus | No change | Acoustic startle reflex test | 6 weeks | Orefice LL , et al. (2019) |
| Sensory | Sensorimotor gating: tactile cue | Increased | Response to air puff | 6 weeks | Orefice LL , et al. (2019) |
| Sensory | Sensorimotor gating: tactile cue | Increased | Prepulse inhibition | 6 weeks | Orefice LL , et al. (2019) |
| Sensory | Sensorimotor gating | No change | Prepulse inhibition | 6 weeks | Orefice LL , et al. (2019) |
| Social behavior | Social memory | Decreased | Three-chamber social approach test | 6 weeks | Orefice LL , et al. (2019) |
| Social behavior | Social approach | Decreased | Three-chamber social approach test | 6 weeks | Orefice LL , et al. (2019) |
| Physiological parameters | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Communications | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Developmental profile | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Emotion | Habituation to aversive stimuli | Decreased | Prepulse inhibition | 6-8 weeks | Orefice LL , et al. (2019) |
| Emotion | Exploratory activity | No change | Novel object recognition test | 6 weeks | Orefice LL , et al. (2019) |
| Emotion | Anxiety | Increased | Elevated plus maze test | 6 weeks | Orefice LL , et al. (2019) |
| Emotion | Anxiety | Increased | Open field test | 6 weeks | Orefice LL , et al. (2019) |
| Immune response | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Learning & memory | Object recognition memory: long-term recall | No change | Novel object recognition test | 6 weeks | Orefice LL , et al. (2019) |
| Maternal behavior | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Molecular profile | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
M_MECP2_55_CKO_HE
Model Type: Genetic
Model Genotype: Hemizygous
Mutation:
Hemizygous mutant male mice with sensory neuron specific inducible deletion of Mecp2 (Advillin-CreERT2; Mecp2^f/y) in the early postnatal period (P10) were generated by crossing Mecp2 floxed mice with loxp sites flanking exons 3 to 4 with transgenic Advillin-CreERT2 driver mice that expresse a tamoxifen-inducible iCre recombinase directed by endogenous Avil (advillin) promoter elements in the dorsal root ganglia and sensory neurons; M_MECP2_5.13_CKO_HE
Allele Type: Conditional knockout
Strain of Origin: Not specified
Genetic Background: C57BL/6J*129/SvEv*CD1
Es cell line: -
Model Source: Jackson Laboratory; John Wood; RRID:IMSR_JAX:032027 (Lau et al, 2011); RRID:IMSR_JAX:006847
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Motor phenotype | General locomotor activity: ambulatory activity | Increased | Open field test | 6-8 weeks | Orefice LL , et al. (2019) |
| Motor phenotype | General locomotor activity | No change | Elevated plus maze test | 6-8 weeks | Orefice LL , et al. (2019) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Neuronal number: interneurons | Abnormal | Immunohistochemistry | 6 weeks | Orefice LL , et al. (2019) |
| Neurophysiology | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Repetitive behavior | Repetitive digging | Increased | Marble-burying test | 6-8 weeks | Orefice LL , et al. (2019) |
| Seizure | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Sensory | Tactile memory | Decreased | Textured novel object recognition test (t-nort) | 6 weeks | Orefice LL , et al. (2019) |
| Sensory | Startle response: acoustic stimulus | No change | Acoustic startle reflex test | 6 weeks | Orefice LL , et al. (2019) |
| Sensory | Sensorimotor gating: tactile cue | Increased | Response to air puff | 6 weeks | Orefice LL , et al. (2019) |
| Sensory | Sensorimotor gating: tactile cue | Increased | Prepulse inhibition | 6 weeks | Orefice LL , et al. (2019) |
| Sensory | Sensorimotor gating | No change | Prepulse inhibition | 6 weeks | Orefice LL , et al. (2019) |
| Social behavior | Social memory | Decreased | Three-chamber social approach test | 6 weeks | Orefice LL , et al. (2019) |
| Social behavior | Social approach | Decreased | Three-chamber social approach test | 6 weeks | Orefice LL , et al. (2019) |
| Physiological parameters | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Communications | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Developmental profile | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Emotion | Habituation to aversive stimuli | Decreased | Prepulse inhibition | 6-8 weeks | Orefice LL , et al. (2019) |
| Emotion | Exploratory activity | No change | Novel object recognition test | 6 weeks | Orefice LL , et al. (2019) |
| Emotion | Anxiety | Decreased | Elevated plus maze test | 6 weeks | Orefice LL , et al. (2019) |
| Emotion | Anxiety | Decreased | Open field test | 6 weeks | Orefice LL , et al. (2019) |
| Immune response | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Learning & memory | Object recognition memory: long-term recall | No change | Novel object recognition test | 6 weeks | Orefice LL , et al. (2019) |
| Maternal behavior | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Molecular profile | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
M_MECP2_56_CKO_HE
Model Type: Genetic
Model Genotype: Hemizygous
Mutation:
Hemizygous mutant male mice with sensory neuron specific inducible deletion of Mecp2 (Advillin-CreERT2; Mecp2^f/y) in the early postnatal period (P28) were generated by crossing Mecp2 floxed mice with loxp sites flanking exons 3 to 4 with transgenic Advillin-CreERT2 driver mice that expresse a tamoxifen-inducible iCre recombinase directed by endogenous Avil (advillin) promoter elements in the dorsal root ganglia and sensory neurons; M_MECP2_5.13_CKO_HE
Allele Type: Conditional knockout
Strain of Origin: Not specified
Genetic Background: C57BL/6J*129/SvEv*CD1
Es cell line: -
Model Source: Jackson Laboratory; John Wood; RRID:IMSR_JAX:032027 (Lau et al, 2011); RRID:IMSR_JAX:006847
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Motor phenotype | General locomotor activity: ambulatory activity | No change | Open field test | 6-8 weeks | Orefice LL , et al. (2019) |
| Motor phenotype | General locomotor activity | No change | Elevated plus maze test | 6-8 weeks | Orefice LL , et al. (2019) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Neuronal number: interneurons | Abnormal | Immunohistochemistry | 6 weeks | Orefice LL , et al. (2019) |
| Neurophysiology | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Repetitive behavior | Repetitive digging | Decreased | Marble-burying test | 6-8 weeks | Orefice LL , et al. (2019) |
| Seizure | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Sensory | Tactile memory | Decreased | Textured novel object recognition test (t-nort) | 6 weeks | Orefice LL , et al. (2019) |
| Sensory | Startle response: acoustic stimulus | No change | Acoustic startle reflex test | 6 weeks | Orefice LL , et al. (2019) |
| Sensory | Sensorimotor gating: tactile cue | Increased | Response to air puff | 6 weeks | Orefice LL , et al. (2019) |
| Sensory | Sensorimotor gating: tactile cue | Increased | Prepulse inhibition | 6 weeks | Orefice LL , et al. (2019) |
| Sensory | Sensorimotor gating | No change | Prepulse inhibition | 6 weeks | Orefice LL , et al. (2019) |
| Social behavior | Social memory | Decreased | Three-chamber social approach test | 6 weeks | Orefice LL , et al. (2019) |
| Social behavior | Social approach | Decreased | Three-chamber social approach test | 6 weeks | Orefice LL , et al. (2019) |
| Physiological parameters | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Communications | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Developmental profile | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Emotion | Habituation to aversive stimuli | No change | Prepulse inhibition | 6-8 weeks | Orefice LL , et al. (2019) |
| Emotion | Exploratory activity | No change | Novel object recognition test | 6 weeks | Orefice LL , et al. (2019) |
| Emotion | Anxiety | No change | Elevated plus maze test | 6 weeks | Orefice LL , et al. (2019) |
| Emotion | Anxiety | No change | Open field test | 6 weeks | Orefice LL , et al. (2019) |
| Immune response | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Learning & memory | Object recognition memory: long-term recall | No change | Novel object recognition test | 6 weeks | Orefice LL , et al. (2019) |
| Maternal behavior | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Molecular profile | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
M_MECP2_57_KI_HE
Model Type: Genetic
Model Genotype: Hemizygous
Mutation:
Male knockin mice harboring an arginine-to-cysteine missense R306 mutation in Mecp2 (Mecp2^R306C), a common allele in Rett syndrome patients. These mutants were used because Mecp2^R306C mutant mice live longer than Mecp2 null allele, allowing a full two-week behavioral assessment at six to eight weeks of age prior to the development of severe breathing abnormalities. As controls for the Gabrb3 rescue experiments these mice were injected with AAV.FLEx.GABRB3.mCHERRY at P5 but the lack of Cre prevented Gabrb3 expression; M_MECP2_39_KI_HE_R306C
Allele Type: ASD LOF knockin
Strain of Origin: Not specified
Genetic Background: C57BL/6J
Es cell line: -
Model Source: Michael Greenberg; Lyst et al., 2013; PMID 23770565
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Motor phenotype | General locomotor activity: ambulatory activity | Decreased | Open field test | 6 weeks | Orefice LL , et al. (2019) |
| Motor phenotype | General locomotor activity | No change | Elevated plus maze test | 6 weeks | Orefice LL , et al. (2019) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Neuroreceptor levels: gaba-r: gabaa | Decreased | Immunohistochemistry | 6 weeks | Orefice LL , et al. (2019) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Neuronal number: interneurons | Increased | Immunohistochemistry | 6 weeks | Orefice LL , et al. (2019) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Neuronal number: interneurons | Decreased | Immunohistochemistry | 6 weeks | Orefice LL , et al. (2019) |
| Neurophysiology | Synaptic transmission | Decreased | Whole-cell patch clamp | 6 weeks | Orefice LL , et al. (2019) |
| Neurophysiology | Synaptic transmission | Decreased | Whole-cell patch clamp | 6 weeks | Orefice LL , et al. (2019) |
| Neurophysiology | Spontaneous post synaptic event frequency: inhibitory currents | Abnormal | Whole-cell patch clamp | 6 weeks | Orefice LL , et al. (2019) |
| Neurophysiology | Spontaneous post synaptic event frequency: excitatory currents | No change | Whole-cell patch clamp | 6 weeks | Orefice LL , et al. (2019) |
| Neurophysiology | Spontaneous post synaptic event amplitude: inhibitory currents | No change | Whole-cell patch clamp | 6 weeks | Orefice LL , et al. (2019) |
| Neurophysiology | Spontaneous post synaptic event amplitude: excitatory currents | No change | Whole-cell patch clamp | 6 weeks | Orefice LL , et al. (2019) |
| Repetitive behavior | Self grooming: perseveration | No change | Grooming behavior assessments | 6 weeks | Orefice LL , et al. (2019) |
| Repetitive behavior | Repetitive digging | Decreased | Marble-burying test | 6 weeks | Orefice LL , et al. (2019) |
| Seizure | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Sensory | Tactile memory | Decreased | Textured novel object recognition test (t-nort) | 6 weeks | Orefice LL , et al. (2019) |
| Sensory | Startle response: acoustic stimulus | Decreased | Acoustic startle reflex test | 6 weeks | Orefice LL , et al. (2019) |
| Sensory | Sensorimotor gating: tactile cue | Increased | Prepulse inhibition | 6 weeks | Orefice LL , et al. (2019) |
| Sensory | Sensorimotor gating: tactile cue | Increased | Response to air puff | 6 weeks | Orefice LL , et al. (2019) |
| Sensory | Sensorimotor gating | Increased | Prepulse inhibition | 6 weeks | Orefice LL , et al. (2019) |
| Social behavior | Social memory | Decreased | Three-chamber social approach test | 6 weeks | Orefice LL , et al. (2019) |
| Social behavior | Social approach | Decreased | Three-chamber social approach test | 6 weeks | Orefice LL , et al. (2019) |
| Social behavior | Social approach | Decreased | Three-chamber social approach test | 6 weeks | Orefice LL , et al. (2019) |
| Physiological parameters | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Communications | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Developmental profile | Size/growth | Decreased | Body weight measurement | NA | Orefice LL , et al. (2019) |
| Developmental profile | General characteristics | Decreased | Macroscopic analysis | 3 weeks | Orefice LL , et al. (2019) |
| Emotion | Habituation to aversive stimuli | Decreased | Prepulse inhibition | 6 weeks | Orefice LL , et al. (2019) |
| Emotion | Exploratory activity | No change | Novel object recognition test | 6 weeks | Orefice LL , et al. (2019) |
| Emotion | Exploratory activity | Increased | Novel object recognition test | 6 weeks | Orefice LL , et al. (2019) |
| Emotion | Anxiety | Increased | Elevated plus maze test | 6 weeks | Orefice LL , et al. (2019) |
| Emotion | Anxiety | Increased | Open field test | 6 weeks | Orefice LL , et al. (2019) |
| Immune response | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Learning & memory | Object recognition memory: long-term recall | Decreased | Novel object recognition test | 6 weeks | Orefice LL , et al. (2019) |
| Maternal behavior | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Molecular profile | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
M_MECP2_57_KI_HE_GABRB3-CRE
Model Type: RESCUE-Genetic
Model Genotype: Hemizygous
Mutation:
Male knockin mice harboring an arginine-to-cysteine missense R306 mutation in Mecp2 (Mecp2^R306C), a common allele in Rett syndrome patients together with Advillin-Cre (Advillin-Cre; Mecp2^C/y). Male Advillin-Cre; Mecp2^C/y mice were intraperitoneally injected at P5 with AAV.FLEx.GABRB3.mCHERRY to restore GABRB3 expression selectively in peripheral somatosensory neurons. Mecp2^R306C littermate mice lacking the Advillin-Cre allele and injected with AAV.FLEx.GABRB3.mCHERRY served as a control together with wild-type littermates with and without the Advillin-Cre allele. Intraperitoneal injection of Advillin-Cre; Mecp2^R306C mice, but not Mecp2^R306C mice lacking the Advillin-Cre allele, with AAV.FLEx.GABRB3.mCHERRY led to transduction of all types of DRG sensory neurons. Wildtype controls were Mecp2^R/y male littermates injected with AAV.FLEx.GABRB3.mCHERRY.
Allele Type: ASD LOF knockin
Strain of Origin: Not specified
Genetic Background: C57BL/6J
Es cell line: -
Model Source: Michael Greenberg; Lyst et al., 2013; PMID 23770565
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Motor phenotype | General locomotor activity: ambulatory activity | Ameliorated | Open field test | 6 weeks | Orefice LL , et al. (2019) |
| Motor phenotype | General locomotor activity | No adverse effect | Elevated plus maze test | 6 weeks | Orefice LL , et al. (2019) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Neuroreceptor levels: gaba-r: gabaa | Ameliorated | Immunohistochemistry | 6 weeks | Orefice LL , et al. (2019) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Neuronal number: interneurons | Ameliorated | Immunohistochemistry | 6 weeks | Orefice LL , et al. (2019) |
| Neurophysiology | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Repetitive behavior | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Seizure | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Sensory | Tactile memory | Restored | Textured novel object recognition test (t-nort) | 6 weeks | Orefice LL , et al. (2019) |
| Sensory | Startle response: acoustic stimulus | Refractory | Acoustic startle reflex test | 6 weeks | Orefice LL , et al. (2019) |
| Sensory | Sensorimotor gating: tactile cue | Ameliorated | Prepulse inhibition | 6 weeks | Orefice LL , et al. (2019) |
| Sensory | Sensorimotor gating: tactile cue | Refractory | Response to air puff | 6 weeks | Orefice LL , et al. (2019) |
| Sensory | Sensorimotor gating: tactile cue | Refractory | Prepulse inhibition | 6 weeks | Orefice LL , et al. (2019) |
| Sensory | Sensorimotor gating: tactile cue | Ameliorated | Response to air puff | 6 weeks | Orefice LL , et al. (2019) |
| Sensory | Sensorimotor gating | Refractory | Prepulse inhibition | 6 weeks | Orefice LL , et al. (2019) |
| Social behavior | Social memory | Restored | Three-chamber social approach test | 6 weeks | Orefice LL , et al. (2019) |
| Social behavior | Social approach | Restored | Three-chamber social approach test | 6 weeks | Orefice LL , et al. (2019) |
| Physiological parameters | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Communications | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Developmental profile | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Emotion | Habituation to aversive stimuli | Restored | NA | NA | Orefice LL , et al. (2019) |
| Emotion | Exploratory activity | No adverse effect | Novel object recognition test | 6 weeks | Orefice LL , et al. (2019) |
| Emotion | Anxiety | Restored | Elevated plus maze test | 6 weeks | Orefice LL , et al. (2019) |
| Emotion | Anxiety | Ameliorated | Open field test | 6 weeks | Orefice LL , et al. (2019) |
| Immune response | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Learning & memory | Object recognition memory: long-term recall | Refractory | Textured novel object recognition test (t-nort) | 6 weeks | Orefice LL , et al. (2019) |
| Maternal behavior | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Molecular profile | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
M_MECP2_57_KI_HE_ISOGUVACINE
Model Type: RESCUE-Pharmaceutical
Model Genotype: Hemizygous
Mutation:
Male knockin mice harboring an arginine-to-cysteine missense R306 mutation in Mecp2 (Mecp2^R306C), a common allele in Rett syndrome patients. These mutants were used because Mecp2^R306C mutant mice live longer than Mecp2 null allele, allowing a full two-week behavioral assessment at six to eight weeks of age prior to the development of severe breathing abnormalities. These mice were administered isoguvacine chronically from P1 to P42 at 2mg/kg, i.p.
Allele Type: ASD LOF knockin
Strain of Origin: Not specified
Genetic Background: C57BL/6J
Es cell line: -
Model Source: Michael Greenberg; Lyst et al., 2013; PMID 23770565
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Motor phenotype | General locomotor activity: ambulatory activity | Restored | Open field test | 6 weeks | Orefice LL , et al. (2019) |
| Motor phenotype | General locomotor activity | No adverse effect | Elevated plus maze test | 6 weeks | Orefice LL , et al. (2019) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Neuronal number: interneurons | Restored | Immunohistochemistry | 6 weeks | Orefice LL , et al. (2019) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Neuronal number: interneurons | Refractory | Immunohistochemistry | 6 weeks | Orefice LL , et al. (2019) |
| Neurophysiology | Synaptic transmission | Refractory | Whole-cell patch clamp | 6 weeks | Orefice LL , et al. (2019) |
| Neurophysiology | Synaptic transmission | Restored | Whole-cell patch clamp | 6 weeks | Orefice LL , et al. (2019) |
| Neurophysiology | Spontaneous post synaptic event frequency: inhibitory currents | Side effect | Whole-cell patch clamp | 6 weeks | Orefice LL , et al. (2019) |
| Neurophysiology | Spontaneous post synaptic event frequency: excitatory currents | No adverse effect | Whole-cell patch clamp | 6 weeks | Orefice LL , et al. (2019) |
| Neurophysiology | Spontaneous post synaptic event amplitude: inhibitory currents | No adverse effect | Whole-cell patch clamp | 6 weeks | Orefice LL , et al. (2019) |
| Neurophysiology | Spontaneous post synaptic event amplitude: excitatory currents | No adverse effect | Whole-cell patch clamp | 6 weeks | Orefice LL , et al. (2019) |
| Repetitive behavior | Self grooming: perseveration | No adverse effect | Grooming behavior assessments | 6 weeks | Orefice LL , et al. (2019) |
| Repetitive behavior | Repetitive digging | Refractory | Marble-burying test | 6 weeks | Orefice LL , et al. (2019) |
| Seizure | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Sensory | Tactile memory | Refractory | Textured novel object recognition test (t-nort) | 6 weeks | Orefice LL , et al. (2019) |
| Sensory | Startle response: acoustic stimulus | Refractory | Acoustic startle reflex test | 6 weeks | Orefice LL , et al. (2019) |
| Sensory | Startle response: acoustic stimulus | No adverse effect | Acoustic startle reflex test | 6 weeks | Orefice LL , et al. (2019) |
| Sensory | Sensorimotor gating: tactile cue | Restored | Prepulse inhibition | 6 weeks | Orefice LL , et al. (2019) |
| Sensory | Sensorimotor gating: tactile cue | Restored | Response to air puff | 6 weeks | Orefice LL , et al. (2019) |
| Sensory | Sensorimotor gating | Refractory | Prepulse inhibition | 6 weeks | Orefice LL , et al. (2019) |
| Social behavior | Social memory | Restored | Three-chamber social approach test | 6 weeks | Orefice LL , et al. (2019) |
| Social behavior | Social approach | Restored | Three-chamber social approach test | 6 weeks | Orefice LL , et al. (2019) |
| Physiological parameters | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Communications | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Developmental profile | Size/growth | Restored | Body weight measurement | NA | Orefice LL , et al. (2019) |
| Developmental profile | General characteristics | Restored | Macroscopic analysis | 3 weeks | Orefice LL , et al. (2019) |
| Emotion | Habituation to aversive stimuli | Restored | Prepulse inhibition | 6 weeks | Orefice LL , et al. (2019) |
| Emotion | Exploratory activity | Restored | Novel object recognition test | 6 weeks | Orefice LL , et al. (2019) |
| Emotion | Anxiety | Restored | Open field test | 6 weeks | Orefice LL , et al. (2019) |
| Emotion | Anxiety | Restored | Elevated plus maze test | 6 weeks | Orefice LL , et al. (2019) |
| Immune response | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Learning & memory | Object recognition memory: long-term recall | Refractory | Novel object recognition test | 6 weeks | Orefice LL , et al. (2019) |
| Maternal behavior | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Molecular profile | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
M_MECP2_58_KI_HT
Model Type: Genetic
Model Genotype: Heterozygous
Mutation:
Female mice heterozygous for the Mecp2 mutation R306C. Controls were female Mecp2^R/R littermates. As controls for the Gabrb3 rescue experiments these mice were injected with AAV.FLEx.GABRB3.mCHERRY at P5 but the lack of Cre prevented Gabrb3 expression; M_MECP2_39_KI_HE_R306C
Allele Type: ASD LOF knockin
Strain of Origin: Not specified
Genetic Background: C57BL/6J
Es cell line: -
Model Source: Michael Greenberg; Lyst et al., 2013; PMID 23770565
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Motor phenotype | General locomotor activity: ambulatory activity | Decreased | Open field test | 6 weeks | Orefice LL , et al. (2019) |
| Motor phenotype | General locomotor activity | No change | Elevated plus maze test | 6 weeks | Orefice LL , et al. (2019) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Neuronal number: interneurons | Increased | Immunohistochemistry | 6 weeks | Orefice LL , et al. (2019) |
| Neurophysiology | Synaptic transmission | Decreased | Whole-cell patch clamp | 6 weeks | Orefice LL , et al. (2019) |
| Neurophysiology | Spontaneous post synaptic event frequency: inhibitory currents | Increased | Whole-cell patch clamp | 6 weeks | Orefice LL , et al. (2019) |
| Neurophysiology | Spontaneous post synaptic event frequency: excitatory currents | No change | Whole-cell patch clamp | 6 weeks | Orefice LL , et al. (2019) |
| Neurophysiology | Spontaneous post synaptic event amplitude: inhibitory currents | No change | Whole-cell patch clamp | 6 weeks | Orefice LL , et al. (2019) |
| Neurophysiology | Spontaneous post synaptic event amplitude: excitatory currents | No change | Whole-cell patch clamp | 6 weeks | Orefice LL , et al. (2019) |
| Repetitive behavior | Repetitive digging | Decreased | Marble-burying test | 6 weeks | Orefice LL , et al. (2019) |
| Seizure | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Sensory | Tactile memory | Decreased | Textured novel object recognition test (t-nort) | 6 weeks | Orefice LL , et al. (2019) |
| Sensory | Startle response: acoustic stimulus | Decreased | Acoustic startle reflex test | 6 weeks | Orefice LL , et al. (2019) |
| Sensory | Sensorimotor gating: tactile cue | Increased | Prepulse inhibition | 6 weeks | Orefice LL , et al. (2019) |
| Sensory | Sensorimotor gating: tactile cue | Increased | Response to air puff | 6 weeks | Orefice LL , et al. (2019) |
| Sensory | Sensorimotor gating | Increased | Prepulse inhibition | 6 weeks | Orefice LL , et al. (2019) |
| Social behavior | Social memory | Decreased | Three-chamber social approach test | 6 weeks | Orefice LL , et al. (2019) |
| Social behavior | Social approach | Decreased | Three-chamber social approach test | 6 weeks | Orefice LL , et al. (2019) |
| Social behavior | Social approach | Decreased | Three-chamber social approach test | 6 weeks | Orefice LL , et al. (2019) |
| Physiological parameters | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Communications | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Developmental profile | Size/growth | Decreased | Body weight measurement | NA | Orefice LL , et al. (2019) |
| Developmental profile | Mortality/lethality | No change | Survival analysis | 6 weeks | Orefice LL , et al. (2019) |
| Developmental profile | General characteristics | Decreased | Macroscopic analysis | 3 weeks | Orefice LL , et al. (2019) |
| Emotion | Habituation to aversive stimuli | Decreased | Prepulse inhibition | 6 weeks | Orefice LL , et al. (2019) |
| Emotion | Exploratory activity | No change | Novel object recognition test | 6 weeks | Orefice LL , et al. (2019) |
| Emotion | Anxiety | Increased | Elevated plus maze test | 6 weeks | Orefice LL , et al. (2019) |
| Emotion | Anxiety | Increased | Open field test | 6 weeks | Orefice LL , et al. (2019) |
| Immune response | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Learning & memory | Object recognition memory: long-term recall | Decreased | Novel object recognition test | 6 weeks | Orefice LL , et al. (2019) |
| Maternal behavior | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Molecular profile | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
M_MECP2_58_KI_HT_GABRB3-CRE
Model Type: RESCUE-Genetic
Model Genotype: Heterozygous
Mutation:
Female mice heterozygous for the Mecp2 mutation R306C together with Advillin-Cre. Mecp2^R306C; Advillin-Cre female mice were intraperitoneally injected at P5 with AAV.FLEx.GABRB3.mCHERRY to restore GABRB3 expression selectively in peripheral somatosensory neurons. Wildtype controls were female Mecp2^R/R littermates injected with AAV.FLEx.GABRB3.mCHERRY.
Allele Type: ASD LOF knockin
Strain of Origin: Not specified
Genetic Background: C57BL/6J
Es cell line: -
Model Source: Michael Greenberg; Lyst et al., 2013; PMID 23770565
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Motor phenotype | General locomotor activity: ambulatory activity | Restored | Open field test | 6 weeks | Orefice LL , et al. (2019) |
| Motor phenotype | General locomotor activity | No adverse effect | Elevated plus maze test | 6 weeks | Orefice LL , et al. (2019) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Neuronal number: interneurons | Refractory | Immunohistochemistry | 6 weeks | Orefice LL , et al. (2019) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Neuronal number: interneurons | Restored | Immunohistochemistry | 6 weeks | Orefice LL , et al. (2019) |
| Neurophysiology | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Repetitive behavior | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Seizure | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Sensory | Tactile memory | Restored | Textured novel object recognition test (t-nort) | 6 weeks | Orefice LL , et al. (2019) |
| Sensory | Startle response: acoustic stimulus | Refractory | Acoustic startle reflex test | 6 weeks | Orefice LL , et al. (2019) |
| Sensory | Sensorimotor gating: tactile cue | Restored | Prepulse inhibition | 6 weeks | Orefice LL , et al. (2019) |
| Sensory | Sensorimotor gating: tactile cue | Refractory | Response to air puff | 6 weeks | Orefice LL , et al. (2019) |
| Sensory | Sensorimotor gating: tactile cue | Refractory | Prepulse inhibition | 6 weeks | Orefice LL , et al. (2019) |
| Sensory | Sensorimotor gating: tactile cue | Restored | Response to air puff | 6 weeks | Orefice LL , et al. (2019) |
| Sensory | Sensorimotor gating | Refractory | Prepulse inhibition | 6 weeks | Orefice LL , et al. (2019) |
| Social behavior | Social memory | Restored | Three-chamber social approach test | 6 weeks | Orefice LL , et al. (2019) |
| Social behavior | Social approach | Restored | Three-chamber social approach test | 6 weeks | Orefice LL , et al. (2019) |
| Physiological parameters | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Communications | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Developmental profile | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Emotion | Habituation to aversive stimuli | Restored | Prepulse inhibition | 6 weeks | Orefice LL , et al. (2019) |
| Emotion | Exploratory activity | No adverse effect | Novel object recognition test | 6 weeks | Orefice LL , et al. (2019) |
| Emotion | Anxiety | Restored | Elevated plus maze test | 6 weeks | Orefice LL , et al. (2019) |
| Emotion | Anxiety | Restored | Open field test | 6 weeks | Orefice LL , et al. (2019) |
| Immune response | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Learning & memory | Object recognition memory: long-term recall | Refractory | Textured novel object recognition test (t-nort) | 6 weeks | Orefice LL , et al. (2019) |
| Maternal behavior | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Molecular profile | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
M_MECP2_58_KI_HT_ISOGUVACINE
Model Type: RESCUE-Pharmaceutical
Model Genotype: Heterozygous
Mutation:
Female mice heterozygous for the Mecp2 mutation R306C were administered isoguvacine chronically from P1 to P42 at 2mg/kg, i.p. Controls were female Mecp2^R/R littermates.
Allele Type: ASD LOF knockin
Strain of Origin: Not specified
Genetic Background: C57BL/6J
Es cell line: -
Model Source: Michael Greenberg; Lyst et al., 2013; PMID 23770565
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Motor phenotype | General locomotor activity: ambulatory activity | No adverse effect | Open field test | 6 weeks | Orefice LL , et al. (2019) |
| Motor phenotype | General locomotor activity | No adverse effect | Elevated plus maze test | 6 weeks | Orefice LL , et al. (2019) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Neuronal number: interneurons | Restored | Immunohistochemistry | 6 weeks | Orefice LL , et al. (2019) |
| Neurophysiology | Synaptic transmission | Refractory | Whole-cell patch clamp | 6 weeks | Orefice LL , et al. (2019) |
| Neurophysiology | Synaptic transmission | Restored | Whole-cell patch clamp | 6 weeks | Orefice LL , et al. (2019) |
| Neurophysiology | Spontaneous post synaptic event frequency: inhibitory currents | Side effect | Whole-cell patch clamp | 6 weeks | Orefice LL , et al. (2019) |
| Neurophysiology | Spontaneous post synaptic event frequency: excitatory currents | No adverse effect | Whole-cell patch clamp | 6 weeks | Orefice LL , et al. (2019) |
| Neurophysiology | Spontaneous post synaptic event amplitude: inhibitory currents | No adverse effect | Whole-cell patch clamp | 6 weeks | Orefice LL , et al. (2019) |
| Neurophysiology | Spontaneous post synaptic event amplitude: excitatory currents | No adverse effect | Whole-cell patch clamp | 6 weeks | Orefice LL , et al. (2019) |
| Repetitive behavior | Repetitive digging | Refractory | Marble-burying test | 6 weeks | Orefice LL , et al. (2019) |
| Seizure | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Sensory | Tactile memory | Refractory | Textured novel object recognition test (t-nort) | 6 weeks | Orefice LL , et al. (2019) |
| Sensory | Startle response: acoustic stimulus | No adverse effect | Acoustic startle reflex test | 6 weeks | Orefice LL , et al. (2019) |
| Sensory | Sensorimotor gating: tactile cue | Refractory | Prepulse inhibition | 6 weeks | Orefice LL , et al. (2019) |
| Sensory | Sensorimotor gating: tactile cue | Restored | Prepulse inhibition | 6 weeks | Orefice LL , et al. (2019) |
| Sensory | Sensorimotor gating: tactile cue | Restored | Response to air puff | 6 weeks | Orefice LL , et al. (2019) |
| Sensory | Sensorimotor gating | Refractory | Prepulse inhibition | 6 weeks | Orefice LL , et al. (2019) |
| Social behavior | Social memory | Restored | Three-chamber social approach test | 6 weeks | Orefice LL , et al. (2019) |
| Social behavior | Social approach | Restored | Three-chamber social approach test | 6 weeks | Orefice LL , et al. (2019) |
| Physiological parameters | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Communications | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Developmental profile | Size/growth | Restored | Body weight measurement | NA | Orefice LL , et al. (2019) |
| Developmental profile | Mortality/lethality | No adverse effect | Survival analysis | 6 weeks | Orefice LL , et al. (2019) |
| Developmental profile | General characteristics | Restored | Macroscopic analysis | 3 weeks | Orefice LL , et al. (2019) |
| Emotion | Habituation to aversive stimuli | Side effect | Prepulse inhibition | 6 weeks | Orefice LL , et al. (2019) |
| Emotion | Exploratory activity | No adverse effect | Novel object recognition test | 6 weeks | Orefice LL , et al. (2019) |
| Emotion | Anxiety | Restored | Open field test | 6 weeks | Orefice LL , et al. (2019) |
| Emotion | Anxiety | Restored | Elevated plus maze test | 6 weeks | Orefice LL , et al. (2019) |
| Immune response | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Learning & memory | Object recognition memory: long-term recall | Refractory | Novel object recognition test | 6 weeks | Orefice LL , et al. (2019) |
| Maternal behavior | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
| Molecular profile | NA | Not reported | NA | NA | Orefice LL , et al. (2019) |
M_MECP2_59_TG_2X
Model Type: Genetic GOF
Model Genotype: Transgenic
Mutation:
A full-length copy of the human gene was injected into fvb fertilized oocytes and 2-fold higher levels of protein compared to endogenous mecp2 was established. fvb-background mecp2-duplication (tg1) mice (collins et al., 2004), were crossed to c57 thy1-gfp-m homozygotes (jackson laboratory) to generate f1c57;fvb mecp2-duplication;thy1-gfpm mice and thy1-gfp-m littermate controls. [note: construct is adapted from existing m_mecp2_34_tg_2x but has a mixed background and reporter]. for motor cortex assessment animals were trained for four consecutive trials daily for four days in a row.
Allele Type: Transgenic
Strain of Origin: FVB
Genetic Background: F1C57*FVB
Es cell line: FVB
Model Source: 15351775, Collins et al, 2004
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Motor phenotype | Motor learning | Increased | Accelerating rotarod test | 4-5 months | Ash RT et al. (2021) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Dendritic architecture: spine turnover | Decreased | Two-photon microscopy | 12-14 weeks | Ash RT et al. (2021) |
| Molecular profile | Signaling: MAPK pathway | Increased | - | - | et al. () |
M_MECP2_59_TG_2X_SL327
Model Type: RESCUE-Pharmaceutical
Model Genotype: Transgenic
Mutation:
Mek inhibitor sl327 (atkins et al., 1998; axonmedchem #1122) was injected intraperitoneally at 32 mg/kg (in 16mg/ml dmso) 30min before rotarod training in m_mecp2_59_tg_2x mice.
Allele Type: Transgenic
Strain of Origin: FVB
Genetic Background: F1C57*FVB
Es cell line: FVB
Model Source: 15351775, Collins et al, 2004
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Motor phenotype | Motor learning | Restored | Accelerating rotarod test | 4-5 months | Ash RT et al. (2021) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Dendritic architecture: spine turnover | Restored | Two-photon microscopy | 12-14 weeks | Ash RT et al. (2021) |
| Molecular profile | Signaling: MAPK pathway | Restored | Western blot | 4-5 months | Ash RT et al. (2021) |
M_MECP2_5_KO_HE
Model Type: Genetic
Model Genotype: Hemizygous
Mutation:
Targeted Cre-loxP mediated deletion of exons 3 and 4 of Mecp2 gene.
Allele Type: Knockout
Strain of Origin: 129P2/OlaHsd
Genetic Background: C57BL/6*129P2/OlaHsd
Es cell line: E14 TG2a
Model Source: Not Specified
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Tillotson R , et al. (2017) |
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Orefice LL , et al. (2016) |
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Gogolla N , et al. (2014) |
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Wood L and Shepherd GM (2010) |
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Roux JC , et al. (2009) |
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Guy J , et al. (2001) |
| Motor phenotype | General locomotor activity: ambulatory activity | Decreased | Open field test | 6-8 weeks | et al. () |
| Motor phenotype | Tremor | Abnormal | General observations | 4-28 weeks | Tillotson R , et al. (2017) |
| Motor phenotype | Limb posture | Abnormal | General observations | 4-28 weeks | Tillotson R , et al. (2017) |
| Motor phenotype | General locomotor activity | Abnormal | General observations | 4-28 weeks | Tillotson R , et al. (2017) |
| Motor phenotype | Gait | Abnormal | General observations | 4-28 weeks | Tillotson R , et al. (2017) |
| Motor phenotype | General locomotor activity | Decreased | Open field test | 6-8 weeks | Orefice LL , et al. (2016) |
| Motor phenotype | NA | Not reported | NA | NA | Gogolla N , et al. (2014) |
| Motor phenotype | NA | Not reported | NA | NA | Wood L and Shepherd GM (2010) |
| Motor phenotype | NA | Not reported | NA | NA | Roux JC , et al. (2009) |
| Motor phenotype | Spontaneous movement | Decreased | Open field test | 3-8 weeks | Guy J , et al. (2001) |
| Motor phenotype | Limb posture | Abnormal | General observations | Unreported | Guy J , et al. (2001) |
| Motor phenotype | Grip strength | No change | Grip strength test | Unreported | Guy J , et al. (2001) |
| Motor phenotype | Gait | Abnormal | General observations | 3-8 weeks | Guy J , et al. (2001) |
| Neuroanatomy / ultrastructure / cytoarchitecture | NA | Not reported | NA | NA | Tillotson R , et al. (2017) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Synaptic neuroreceptors | Decreased | Immunohistochemistry | 3-6 months | Orefice LL , et al. (2016) |
| Neuroanatomy / ultrastructure / cytoarchitecture | NA | Not reported | NA | NA | Gogolla N , et al. (2014) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Brain morphology | Decreased | Photomicrographic analysis | 3-4 weeks | Wood L and Shepherd GM (2010) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Brain cytoarchitecture | Decreased | Immunohistochemistry | 7 weeks | Roux JC , et al. (2009) |
| Neuroanatomy / ultrastructure / cytoarchitecture | NA | Not reported | NA | NA | Guy J , et al. (2001) |
| Neurophysiology | NA | Not reported | NA | NA | Tillotson R , et al. (2017) |
| Neurophysiology | NA | Not reported | NA | NA | Orefice LL , et al. (2016) |
| Neurophysiology | NA | Not reported | NA | NA | Gogolla N , et al. (2014) |
| Neurophysiology | Synaptic transmission: inhibitory | No change | Whole-cell patch clamp | 3-4 weeks | Wood L and Shepherd GM (2010) |
| Neurophysiology | Synaptic transmission: excitatory | Decreased | Laser scanning photostimulation | Unreported | Wood L and Shepherd GM (2010) |
| Neurophysiology | Synaptic transmission: excitatory | Decreased | Laser scanning photostimulation | Unreported | Wood L and Shepherd GM (2010) |
| Neurophysiology | Synaptic transmission: excitatory | Decreased | Whole-cell patch clamp | 3-4 weeks | Wood L and Shepherd GM (2010) |
| Neurophysiology | Synaptic transmission | No change | Whole-cell patch clamp | 3-4 weeks | Wood L and Shepherd GM (2010) |
| Neurophysiology | Neural spike train signal frequency | No change | Whole-cell patch clamp | 3-4 weeks | Wood L and Shepherd GM (2010) |
| Neurophysiology | NA | Not reported | NA | NA | Roux JC , et al. (2009) |
| Neurophysiology | NA | Not reported | NA | NA | Guy J , et al. (2001) |
| Repetitive behavior | NA | Not reported | NA | NA | Tillotson R , et al. (2017) |
| Repetitive behavior | NA | Not reported | NA | NA | Orefice LL , et al. (2016) |
| Repetitive behavior | NA | Not reported | NA | NA | Gogolla N , et al. (2014) |
| Repetitive behavior | NA | Not reported | NA | NA | Wood L and Shepherd GM (2010) |
| Repetitive behavior | NA | Not reported | NA | NA | Roux JC , et al. (2009) |
| Repetitive behavior | NA | Not reported | NA | NA | Guy J , et al. (2001) |
| Seizure | NA | Not reported | NA | NA | Tillotson R , et al. (2017) |
| Seizure | NA | Not reported | NA | NA | Orefice LL , et al. (2016) |
| Seizure | NA | Not reported | NA | NA | Gogolla N , et al. (2014) |
| Seizure | NA | Not reported | NA | NA | Wood L and Shepherd GM (2010) |
| Seizure | NA | Not reported | NA | NA | Roux JC , et al. (2009) |
| Seizure | NA | Not reported | NA | NA | Guy J , et al. (2001) |
| Sensory | Startle response: tactile stimulus | Increased | Response to air puff | 6-8 weeks | et al. () |
| Sensory | Sensorimotor gating: tactile cue | Decreased | Prepulse inhibition | 6-8 weeks | et al. () |
| Sensory | Hypersensitivity: tactile stimulus | Increased | Response to air puff | P4 | et al. () |
| Sensory | NA | Not reported | NA | NA | Tillotson R , et al. (2017) |
| Sensory | Touch | Increased | Response to air puff | 6-8 weeks | Orefice LL , et al. (2016) |
| Sensory | Tactile memory | Decreased | Textured novel object recognition test (t-nort) | 6-8 weeks | Orefice LL , et al. (2016) |
| Sensory | Startle response: acoustic stimulus | Decreased | Startle response test | 6-8 weeks | Orefice LL , et al. (2016) |
| Sensory | Sensorimotor gating: tactile cue | Decreased | Prepulse inhibition | 6-8 weeks | Orefice LL , et al. (2016) |
| Sensory | Sensorimotor gating | Decreased | Prepulse inhibition | 6-8 weeks | Orefice LL , et al. (2016) |
| Sensory | Sensory-evoked response: excitation: auditory stimulus | Increased | Measurement of area of activation (roi) in the insular cortex | Adult | Gogolla N , et al. (2014) |
| Sensory | Multisensory integration: sensory neurons of insular cortex: auditory-tactile | Decreased | Quantification of degree of integration | Adult | Gogolla N , et al. (2014) |
| Sensory | NA | Not reported | NA | NA | Wood L and Shepherd GM (2010) |
| Sensory | NA | Not reported | NA | NA | Roux JC , et al. (2009) |
| Sensory | Vision | No change | Forepaw reaching test | Unreported | Guy J , et al. (2001) |
| Social behavior | Social approach | Decreased | Three-chamber social approach test | 6-8 weeks | et al. () |
| Social behavior | NA | Not reported | NA | NA | Tillotson R , et al. (2017) |
| Social behavior | Social memory | Decreased | Three-chamber social approach test | 6-8 weeks | Orefice LL , et al. (2016) |
| Social behavior | Social dominance | Decreased | Tube test of social dominance | 6-8 weeks | Orefice LL , et al. (2016) |
| Social behavior | Social approach | Decreased | Three-chamber social approach test | 6-8 weeks | Orefice LL , et al. (2016) |
| Social behavior | Nest building behavior | Decreased | Nest building assay | 6-8 weeks | Orefice LL , et al. (2016) |
| Social behavior | NA | Not reported | NA | NA | Gogolla N , et al. (2014) |
| Social behavior | NA | Not reported | NA | NA | Wood L and Shepherd GM (2010) |
| Social behavior | NA | Not reported | NA | NA | Roux JC , et al. (2009) |
| Social behavior | NA | Not reported | NA | NA | Guy J , et al. (2001) |
| Physiological parameters | NA | Not reported | NA | NA | Tillotson R , et al. (2017) |
| Physiological parameters | Respiratory function | Decreased | Whole body plethysmography | 2-2.5 months | Orefice LL , et al. (2016) |
| Physiological parameters | NA | Not reported | NA | NA | Orefice LL , et al. (2016) |
| Physiological parameters | NA | Not reported | NA | NA | Gogolla N , et al. (2014) |
| Physiological parameters | NA | Not reported | NA | NA | Wood L and Shepherd GM (2010) |
| Physiological parameters | NA | Not reported | NA | NA | Roux JC , et al. (2009) |
| Physiological parameters | Apoptosis | No change | Tunel assay | 4, 7.5 weeks | Roux JC , et al. (2009) |
| Physiological parameters | NA | Not reported | NA | NA | Guy J , et al. (2001) |
| Communications | NA | Not reported | NA | NA | Tillotson R , et al. (2017) |
| Communications | NA | Not reported | NA | NA | Orefice LL , et al. (2016) |
| Communications | NA | Not reported | NA | NA | Gogolla N , et al. (2014) |
| Communications | NA | Not reported | NA | NA | Wood L and Shepherd GM (2010) |
| Communications | NA | Not reported | NA | NA | Roux JC , et al. (2009) |
| Communications | NA | Not reported | NA | NA | Guy J , et al. (2001) |
| Developmental profile | Mortality/lethality | Increased | General observations | 0-30 weeks | Tillotson R , et al. (2017) |
| Developmental profile | Size/growth | Decreased | Body weight measurement | 2-2.5 months | Orefice LL , et al. (2016) |
| Developmental profile | Mortality/lethality | Increased | Survival analysis | 1-10 months | Orefice LL , et al. (2016) |
| Developmental profile | NA | Not reported | NA | NA | Gogolla N , et al. (2014) |
| Developmental profile | NA | Not reported | NA | NA | Wood L and Shepherd GM (2010) |
| Developmental profile | NA | Not reported | NA | NA | Roux JC , et al. (2009) |
| Developmental profile | Size/growth | Decreased | General observations | 4 weeks | Guy J , et al. (2001) |
| Developmental profile | Developmental trajectory | Abnormal | General observations | Unreported | Guy J , et al. (2001) |
| Emotion | Habituation to aversive stimuli | Decreased | Response to air puff | P4 | et al. () |
| Emotion | Anxiety | Increased | Open field test | 6-8 weeks | et al. () |
| Emotion | NA | Not reported | NA | NA | Tillotson R , et al. (2017) |
| Emotion | Habituation to aversive stimuli | Decreased | Startle response test | 6-8 weeks | Orefice LL , et al. (2016) |
| Emotion | Exploratory activity | Decreased | Textured novel object recognition test (t-nort) | 6-8 weeks | Orefice LL , et al. (2016) |
| Emotion | Exploratory activity | No change | Textured novel object recognition test (t-nort) | 6-8 weeks | Orefice LL , et al. (2016) |
| Emotion | Anxiety | Increased | Open field test | 6-8 weeks | Orefice LL , et al. (2016) |
| Emotion | Anxiety | Increased | Elevated plus maze test | 6-8 weeks | Orefice LL , et al. (2016) |
| Emotion | NA | Not reported | NA | NA | Gogolla N , et al. (2014) |
| Emotion | NA | Not reported | NA | NA | Wood L and Shepherd GM (2010) |
| Emotion | NA | Not reported | NA | NA | Roux JC , et al. (2009) |
| Emotion | NA | Not reported | NA | NA | Guy J , et al. (2001) |
| Immune response | NA | Not reported | NA | NA | Tillotson R , et al. (2017) |
| Immune response | NA | Not reported | NA | NA | Orefice LL , et al. (2016) |
| Immune response | NA | Not reported | NA | NA | Gogolla N , et al. (2014) |
| Immune response | NA | Not reported | NA | NA | Wood L and Shepherd GM (2010) |
| Immune response | NA | Not reported | NA | NA | Roux JC , et al. (2009) |
| Immune response | NA | Not reported | NA | NA | Guy J , et al. (2001) |
| Learning & memory | NA | Not reported | NA | NA | Tillotson R , et al. (2017) |
| Learning & memory | Object recognition memory: long-term recall | Decreased | Novel object recognition test | 6-8 weeks | Orefice LL , et al. (2016) |
| Learning & memory | Object recognition memory | Decreased | Novel object recognition test | 6-8 weeks | Orefice LL , et al. (2016) |
| Learning & memory | NA | Not reported | NA | NA | Gogolla N , et al. (2014) |
| Learning & memory | NA | Not reported | NA | NA | Wood L and Shepherd GM (2010) |
| Learning & memory | NA | Not reported | NA | NA | Roux JC , et al. (2009) |
| Learning & memory | NA | Not reported | NA | NA | Guy J , et al. (2001) |
| Maternal behavior | NA | Not reported | NA | NA | Tillotson R , et al. (2017) |
| Maternal behavior | NA | Not reported | NA | NA | Orefice LL , et al. (2016) |
| Maternal behavior | NA | Not reported | NA | NA | Gogolla N , et al. (2014) |
| Maternal behavior | NA | Not reported | NA | NA | Wood L and Shepherd GM (2010) |
| Maternal behavior | NA | Not reported | NA | NA | Roux JC , et al. (2009) |
| Maternal behavior | NA | Not reported | NA | NA | Guy J , et al. (2001) |
| Molecular profile | Targeted expression | Decreased | Immunohistochemistry | P4 | et al. () |
| Molecular profile | NA | Not reported | NA | NA | Tillotson R , et al. (2017) |
| Molecular profile | NA | Not reported | NA | NA | Orefice LL , et al. (2016) |
| Molecular profile | NA | Not reported | NA | NA | Gogolla N , et al. (2014) |
| Molecular profile | NA | Not reported | NA | NA | Wood L and Shepherd GM (2010) |
| Molecular profile | Protein expression level evidence | Decreased | Immunohistochemistry | 7 weeks | Roux JC , et al. (2009) |
| Molecular profile | Gene expression | Decreased | Quantitative pcr (qrt-pcr) | P15, p30, p50 | Roux JC , et al. (2009) |
| Molecular profile | NA | Not reported | NA | NA | Guy J , et al. (2001) |
M_MECP2_5_KO_HE_HDNIC
Model Type: RESCUE-Genetic
Model Genotype: Homozygous
Mutation:
A human version of the dNIC gene driven by a minimal Mecp2 promoter was tagged with a short Myc epitope and packaged into a self-complementary adeno-associated viral vector (scAAV). Neonatal mice (postnatal day 12) were injected intra-cranially with this virus and expressed humanized dNIC protein.
Allele Type: Knockout
Strain of Origin: -
Genetic Background: -
Es cell line: -
Model Source: -
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Tillotson R , et al. (2017) |
| Motor phenotype | Tremor | Ameliorated | General observations | 4-28 weeks | Tillotson R , et al. (2017) |
| Motor phenotype | Limb posture | Ameliorated | General observations | 4-28 weeks | Tillotson R , et al. (2017) |
| Motor phenotype | General locomotor activity | Ameliorated | General observations | 4-28 weeks | Tillotson R , et al. (2017) |
| Motor phenotype | Gait | Ameliorated | General observations | 4-28 weeks | Tillotson R , et al. (2017) |
| Neuroanatomy / ultrastructure / cytoarchitecture | NA | Not reported | NA | NA | Tillotson R , et al. (2017) |
| Neurophysiology | NA | Not reported | NA | NA | Tillotson R , et al. (2017) |
| Repetitive behavior | NA | Not reported | NA | NA | Tillotson R , et al. (2017) |
| Seizure | NA | Not reported | NA | NA | Tillotson R , et al. (2017) |
| Sensory | NA | Not reported | NA | NA | Tillotson R , et al. (2017) |
| Social behavior | NA | Not reported | NA | NA | Tillotson R , et al. (2017) |
| Physiological parameters | NA | Not reported | NA | NA | Tillotson R , et al. (2017) |
| Communications | NA | Not reported | NA | NA | Tillotson R , et al. (2017) |
| Developmental profile | Mortality/lethality | Ameliorated | General observations | 0-30 weeks | Tillotson R , et al. (2017) |
| Emotion | NA | Not reported | NA | NA | Tillotson R , et al. (2017) |
| Immune response | NA | Not reported | NA | NA | Tillotson R , et al. (2017) |
| Learning & memory | NA | Not reported | NA | NA | Tillotson R , et al. (2017) |
| Maternal behavior | NA | Not reported | NA | NA | Tillotson R , et al. (2017) |
| Molecular profile | NA | Not reported | NA | NA | Tillotson R , et al. (2017) |
M_MECP2_5_KO_HT
Model Type: Genetic
Model Genotype: Heterozygous
Mutation:
Targeted Cre-loxP mediated deletion of exons 3 and 4 of Mecp2 gene.
Allele Type: Knockout
Strain of Origin: C57BL/6J
Genetic Background: Not Specified
Es cell line: E14 TG2a
Model Source: Not Specified
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Liao W , et al. (2012) |
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Braun S , et al. (2011) |
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Roux JC , et al. (2009) |
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Guy J , et al. (2001) |
| Motor phenotype | Swimming ability | No change | Morris water maze test | Adult | Achilly NP et al. (2021) |
| Motor phenotype | Motor coordination and balance | Decreased | Accelerating rotarod test | 8-32 weeks | Achilly NP et al. (2021) |
| Motor phenotype | Grip strength | Decreased | Wire hang test | 24 weeks | Achilly NP et al. (2021) |
| Motor phenotype | General locomotor activity: Ambulatory activity | Decreased | Open field test | 25 weeks | Achilly NP et al. (2021) |
| Motor phenotype | NA | Not reported | NA | NA | Liao W , et al. (2012) |
| Motor phenotype | Tremor | Increased | General observations | 0-10 months | Braun S , et al. (2011) |
| Motor phenotype | Hypoactivity | Increased | General observations | 0-10 months | Braun S , et al. (2011) |
| Motor phenotype | Clasping reflex | Increased | General observations | 0-7 weeks | Braun S , et al. (2011) |
| Motor phenotype | NA | Not reported | NA | NA | Roux JC , et al. (2009) |
| Motor phenotype | Limb posture | Abnormal | Tail suspension test | > 3 months | Guy J , et al. (2001) |
| Motor phenotype | General locomotor activity | Decreased | Open field test | Unreported | Guy J , et al. (2001) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Neuronal morphology | Decreased | Immunofluorescence staining | 24 weeks | Achilly NP et al. (2021) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Dendritic architecture: spine density | Decreased | Immunofluorescence staining | 24 weeks | Achilly NP et al. (2021) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Dendritic architecture: dendritic tree complexity | Decreased | Immunofluorescence staining | 24 weeks | Achilly NP et al. (2021) |
| Neuroanatomy / ultrastructure / cytoarchitecture | NA | Not reported | NA | NA | Liao W , et al. (2012) |
| Neuroanatomy / ultrastructure / cytoarchitecture | NA | Not reported | NA | NA | Braun S , et al. (2011) |
| Neuroanatomy / ultrastructure / cytoarchitecture | NA | Not reported | NA | NA | Roux JC , et al. (2009) |
| Neuroanatomy / ultrastructure / cytoarchitecture | NA | Not reported | NA | NA | Guy J , et al. (2001) |
| Neurophysiology | Spontaneous post synaptic event frequency: inhibitory currents | Decreased | Whole-cell patch clamp | 13 weeks | Achilly NP et al. (2021) |
| Neurophysiology | Spontaneous post synaptic event frequency: excitatory currents | Decreased | Whole-cell patch clamp | 13 weeks | Achilly NP et al. (2021) |
| Neurophysiology | Spontaneous post synaptic event amplitude: inhibitory currents | Decreased | Whole-cell patch clamp | 13 weeks | Achilly NP et al. (2021) |
| Neurophysiology | Spontaneous post synaptic event amplitude: excitatory currents | Decreased | Whole-cell patch clamp | 13 weeks | Achilly NP et al. (2021) |
| Neurophysiology | Neuronal activation following behavioral stimulation | Decreased | Immunofluorescence staining | 24 weeks | Achilly NP et al. (2021) |
| Neurophysiology | Event related potential (erp) in electroencephalography (eeg) | No change | Electroencephalogram (eeg) | 4-5 months | Liao W , et al. (2012) |
| Neurophysiology | Event related potential (erp) in electroencephalography (eeg) | Abnormal | Electroencephalogram (eeg) | 4-5 months | Liao W , et al. (2012) |
| Neurophysiology | Event related potential (erp) in electroencephalography (eeg) | Abnormal | Electroencephalogram (eeg) | 4-5 months | Liao W , et al. (2012) |
| Neurophysiology | Event related potential (erp) in electroencephalography (eeg) | Abnormal | Event related potential (erp) | 4-5 months | Liao W , et al. (2012) |
| Neurophysiology | Event related potential (erp) in electroencephalography (eeg) | Abnormal | Event related potential (erp) | 4-5 months | Liao W , et al. (2012) |
| Neurophysiology | NA | Not reported | NA | NA | Braun S , et al. (2011) |
| Neurophysiology | NA | Not reported | NA | NA | Roux JC , et al. (2009) |
| Neurophysiology | NA | Not reported | NA | NA | Guy J , et al. (2001) |
| Repetitive behavior | NA | Not reported | NA | NA | Liao W , et al. (2012) |
| Repetitive behavior | NA | Not reported | NA | NA | Braun S , et al. (2011) |
| Repetitive behavior | NA | Not reported | NA | NA | Roux JC , et al. (2009) |
| Repetitive behavior | NA | Not reported | NA | NA | Guy J , et al. (2001) |
| Seizure | NA | Not reported | NA | NA | Liao W , et al. (2012) |
| Seizure | NA | Not reported | NA | NA | Braun S , et al. (2011) |
| Seizure | NA | Not reported | NA | NA | Roux JC , et al. (2009) |
| Seizure | NA | Not reported | NA | NA | Guy J , et al. (2001) |
| Sensory | Startle response: acoustic stimulus | No change | Prepulse inhibition | 24 weeks | Achilly NP et al. (2021) |
| Sensory | Startle response: acoustic stimulus | Decreased | Acoustic startle reflex test | 24 weeks | Achilly NP et al. (2021) |
| Sensory | NA | Not reported | NA | NA | Liao W , et al. (2012) |
| Sensory | NA | Not reported | NA | NA | Braun S , et al. (2011) |
| Sensory | NA | Not reported | NA | NA | Roux JC , et al. (2009) |
| Sensory | NA | Not reported | NA | NA | Guy J , et al. (2001) |
| Social behavior | Social approach | No change | Three-chamber social approach test | 24 weeks | Achilly NP et al. (2021) |
| Social behavior | NA | Not reported | NA | NA | Liao W , et al. (2012) |
| Social behavior | NA | Not reported | NA | NA | Braun S , et al. (2011) |
| Social behavior | NA | Not reported | NA | NA | Roux JC , et al. (2009) |
| Social behavior | NA | Not reported | NA | NA | Guy J , et al. (2001) |
| Physiological parameters | NA | Not reported | NA | NA | Liao W , et al. (2012) |
| Physiological parameters | Hormone levels | Decreased | Elisa | 7.5 weeks | Liao W , et al. (2012) |
| Physiological parameters | NA | Not reported | NA | NA | Braun S , et al. (2011) |
| Physiological parameters | NA | Not reported | NA | NA | Roux JC , et al. (2009) |
| Physiological parameters | NA | Not reported | NA | NA | Guy J , et al. (2001) |
| Communications | NA | Not reported | NA | NA | Liao W , et al. (2012) |
| Communications | NA | Not reported | NA | NA | Braun S , et al. (2011) |
| Communications | NA | Not reported | NA | NA | Roux JC , et al. (2009) |
| Communications | NA | Not reported | NA | NA | Guy J , et al. (2001) |
| Developmental profile | Size/growth | No change | Body weight measurement | Adult | Achilly NP et al. (2021) |
| Developmental profile | NA | Not reported | NA | NA | Liao W , et al. (2012) |
| Developmental profile | Mortality/lethality | No change | General observations | 5.5 months | Braun S , et al. (2011) |
| Developmental profile | NA | Not reported | NA | NA | Roux JC , et al. (2009) |
| Developmental profile | Developmental trajectory | Abnormal | General observations | 9 months | Guy J , et al. (2001) |
| Emotion | Anxiety | Decreased | Elevated plus maze test | 24 weeks | Achilly NP et al. (2021) |
| Emotion | NA | Not reported | NA | NA | Liao W , et al. (2012) |
| Emotion | NA | Not reported | NA | NA | Braun S , et al. (2011) |
| Emotion | NA | Not reported | NA | NA | Roux JC , et al. (2009) |
| Emotion | Anxiety | No change | Open field test | Unreported | Guy J , et al. (2001) |
| Immune response | NA | Not reported | NA | NA | Liao W , et al. (2012) |
| Immune response | NA | Not reported | NA | NA | Braun S , et al. (2011) |
| Immune response | NA | Not reported | NA | NA | Roux JC , et al. (2009) |
| Immune response | NA | Not reported | NA | NA | Guy J , et al. (2001) |
| Learning & memory | Spatial working memory | Decreased | Morris water maze test | 24 weeks | Achilly NP et al. (2021) |
| Learning & memory | Spatial reference memory | Decreased | Morris water maze test | 24 weeks | Achilly NP et al. (2021) |
| Learning & memory | Cued or contextual fear conditioning: Memory of cue | No change | Fear conditioning test | 24 weeks | Achilly NP et al. (2021) |
| Learning & memory | Cued or contextual fear conditioning: Memory of context | Decreased | Fear conditioning test | 24 weeks | Achilly NP et al. (2021) |
| Learning & memory | NA | Not reported | NA | NA | Liao W , et al. (2012) |
| Learning & memory | NA | Not reported | NA | NA | Braun S , et al. (2011) |
| Learning & memory | NA | Not reported | NA | NA | Roux JC , et al. (2009) |
| Learning & memory | NA | Not reported | NA | NA | Guy J , et al. (2001) |
| Maternal behavior | NA | Not reported | NA | NA | Liao W , et al. (2012) |
| Maternal behavior | NA | Not reported | NA | NA | Braun S , et al. (2011) |
| Maternal behavior | NA | Not reported | NA | NA | Roux JC , et al. (2009) |
| Maternal behavior | NA | Not reported | NA | NA | Guy J , et al. (2001) |
| Molecular profile | Protein expression level evidence | Decreased | Western blot | 8 weeks | Liao W , et al. (2012) |
| Molecular profile | Protein expression level evidence | Decreased | Immunohistochemistry | 8 weeks | Liao W , et al. (2012) |
| Molecular profile | Protein expression level evidence | Decreased | Immunohistochemistry | 8 weeks | Liao W , et al. (2012) |
| Molecular profile | Gene expression | No change | Quantitative pcr (qrt-pcr) | Unreported | Liao W , et al. (2012) |
| Molecular profile | Gene expression | No change | Western blot | Unreported | Liao W , et al. (2012) |
| Molecular profile | Gene expression | Increased | Quantitative pcr (qrt-pcr) | 5 weeks | Braun S , et al. (2011) |
| Molecular profile | Protein expression level evidence | No change | Immunohistochemistry | Unreported | Roux JC , et al. (2009) |
| Molecular profile | Gene expression | Decreased | Quantitative pcr (qrt-pcr) | 10-12 months | Roux JC , et al. (2009) |
| Molecular profile | NA | Not reported | NA | NA | Guy J , et al. (2001) |
M_MECP2_5_KO_HT_TRAINING
Model Type: RESCUE-Behavioral
Model Genotype: heterozygous
Mutation:
Mutant mice were trained on the behavioral testing paradigms before the emergence of deficits (presymptomatic training). to determine whether presymptomatic training bestowed lasting benefits in rotarod performance, early-trained mice were trained beyond 24 weeks of age using the same regimen.
Allele Type: Knockout
Strain of Origin: C57BL/6J
Genetic Background: C57BL/6J
Es cell line: E14 TG2a
Model Source: Guy J, et al, Nat. Gen, 2021; 11242117
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Motor phenotype | Motor coordination and balance | Restored | Accelerating rotarod test | 8-32 weeks | Achilly NP et al. (2021) |
| Motor phenotype | Grip strength | Refractory | Wire hang test | 24 weeks | Achilly NP et al. (2021) |
| Motor phenotype | General locomotor activity: Ambulatory activity | Refractory | Open field test | 25 weeks | Achilly NP et al. (2021) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Neuronal morphology | Ameliorated | Immunofluorescence staining | 24 weeks | Achilly NP et al. (2021) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Dendritic architecture: spine density | Ameliorated | Immunofluorescence staining | 24 weeks | Achilly NP et al. (2021) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Dendritic architecture: dendritic tree complexity | Ameliorated | Immunofluorescence staining | 24 weeks | Achilly NP et al. (2021) |
| Neurophysiology | Spontaneous post synaptic event frequency: inhibitory currents | Ameliorated | Whole-cell patch clamp | 13 weeks | Achilly NP et al. (2021) |
| Neurophysiology | Spontaneous post synaptic event frequency: excitatory currents | Ameliorated | Whole-cell patch clamp | 13 weeks | Achilly NP et al. (2021) |
| Neurophysiology | Spontaneous post synaptic event amplitude: inhibitory currents | Refractory | Whole-cell patch clamp | 13 weeks | Achilly NP et al. (2021) |
| Neurophysiology | Spontaneous post synaptic event amplitude: excitatory currents | Refractory | Whole-cell patch clamp | 13 weeks | Achilly NP et al. (2021) |
| Neurophysiology | Neuronal activation following behavioral stimulation | Ameliorated | Immunofluorescence staining | 24 weeks | Achilly NP et al. (2021) |
| Sensory | Startle response: acoustic stimulus | Refractory | Acoustic startle reflex test | 24 weeks | Achilly NP et al. (2021) |
| Developmental profile | Size/growth | No adverse effect | Body weight measurement | Adult | Achilly NP et al. (2021) |
| Emotion | Anxiety | Refractory | Elevated plus maze test | 24 weeks | Achilly NP et al. (2021) |
| Learning & memory | Spatial working memory | Restored | Morris water maze test | 24 weeks | Achilly NP et al. (2021) |
| Learning & memory | Spatial reference memory | Restored | Morris water maze test | 24 weeks | Achilly NP et al. (2021) |
| Learning & memory | Cued or contextual fear conditioning: Memory of cue | No adverse effect | Fear conditioning test | 24 weeks | Achilly NP et al. (2021) |
| Learning & memory | Cued or contextual fear conditioning: Memory of context | Refractory | Fear conditioning test | 24 weeks | Achilly NP et al. (2021) |
M_MECP2_6_KD
Model Type: Genetic
Model Genotype: Wildtype
Mutation:
Seven-week-old wildtype C57BL/6 male mice were injected with MeCP2-siRNA (1385135, NM_010788.2), bilaterally in the dorsal striatum using a stereotaxic apparatus, resulting in a reduction of Mecp2 transcript levels to about 0.3 fold compared with control siRNA injected mice.
Allele Type: Knockdown
Strain of Origin: C57Bl/6
Genetic Background: C57Bl/6
Es cell line: -
Model Source: Daehan BioLink (Eumsung, Chungbuk, Republic of Korea)
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Lee Y , et al. (2019) |
| Motor phenotype | General locomotor activity: ambulatory activity | No change | Open field test | Adult | Lee Y , et al. (2019) |
| Neuroanatomy / ultrastructure / cytoarchitecture | NA | Not reported | NA | NA | Lee Y , et al. (2019) |
| Neurophysiology | NA | Not reported | NA | NA | Lee Y , et al. (2019) |
| Repetitive behavior | Self grooming: perseveration | Increased | Grooming behavior assessments | Adult | Lee Y , et al. (2019) |
| Repetitive behavior | Repetitive digging | No change | Home cage behavior | Adult | Lee Y , et al. (2019) |
| Repetitive behavior | Repetitive digging | No change | Marble-burying test | Adult | Lee Y , et al. (2019) |
| Seizure | NA | Not reported | NA | NA | Lee Y , et al. (2019) |
| Sensory | NA | Not reported | NA | NA | Lee Y , et al. (2019) |
| Social behavior | Social memory | Decreased | U-field assay | Adult | Lee Y , et al. (2019) |
| Social behavior | Social approach | Decreased | Three-chamber social approach test | Adult | Lee Y , et al. (2019) |
| Physiological parameters | NA | Not reported | NA | NA | Lee Y , et al. (2019) |
| Communications | NA | Not reported | NA | NA | Lee Y , et al. (2019) |
| Developmental profile | NA | Not reported | NA | NA | Lee Y , et al. (2019) |
| Emotion | NA | Not reported | NA | NA | Lee Y , et al. (2019) |
| Immune response | NA | Not reported | NA | NA | Lee Y , et al. (2019) |
| Learning & memory | Object recognition memory | Decreased | Object preference test | Adult | Lee Y , et al. (2019) |
| Maternal behavior | NA | Not reported | NA | NA | Lee Y , et al. (2019) |
| Molecular profile | Targeted expression | Decreased | Quantitative pcr (qrt-pcr) | Adult | Lee Y , et al. (2019) |
M_MECP2_6_KD_CYCLOSERINE
Model Type: RESCUE-Pharmaceutical
Model Genotype: Wildtype
Mutation:
D-cycloserine was administered intraperitoneally (i.p.) at the dose of 20 mg/kg, 30 min prior to the behavioral tests in M_MECP2_6_KD mice.
Allele Type: Knockdown
Strain of Origin: C57BL/6
Genetic Background: C57BL/6
Es cell line: NA
Model Source: Daehan BioLink (Eumsung, Chungbuk, Republic of Korea)
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Lee Y , et al. (2019) |
| Motor phenotype | NA | Not reported | NA | NA | Lee Y , et al. (2019) |
| Neuroanatomy / ultrastructure / cytoarchitecture | NA | Not reported | NA | NA | Lee Y , et al. (2019) |
| Neurophysiology | NA | Not reported | NA | NA | Lee Y , et al. (2019) |
| Repetitive behavior | Self grooming: perseveration | Restored | Grooming behavior assessments | Adult | Lee Y , et al. (2019) |
| Seizure | NA | Not reported | NA | NA | Lee Y , et al. (2019) |
| Sensory | NA | Not reported | NA | NA | Lee Y , et al. (2019) |
| Social behavior | Social memory | Restored | U-field assay | Adult | Lee Y , et al. (2019) |
| Physiological parameters | NA | Not reported | NA | NA | Lee Y , et al. (2019) |
| Communications | NA | Not reported | NA | NA | Lee Y , et al. (2019) |
| Developmental profile | NA | Not reported | NA | NA | Lee Y , et al. (2019) |
| Emotion | NA | Not reported | NA | NA | Lee Y , et al. (2019) |
| Immune response | NA | Not reported | NA | NA | Lee Y , et al. (2019) |
| Learning & memory | Object recognition memory | Restored | Object preference test | Adult | Lee Y , et al. (2019) |
| Maternal behavior | NA | Not reported | NA | NA | Lee Y , et al. (2019) |
| Molecular profile | NA | Not reported | NA | NA | Lee Y , et al. (2019) |
M_MECP2_6_KD_FENOBAM
Model Type: RESCUE-Pharmaceutical
Model Genotype: Wildtype
Mutation:
Fenobam was administered intraperitoneally (i.p.) at the dose of 30 mg/kg, 60 min prior to the behavioral tests in M_MECP2_6_KD mice.
Allele Type: Knockdown
Strain of Origin: C57BL/6
Genetic Background: C57BL/6
Es cell line: NA
Model Source: Daehan BioLink (Eumsung, Chungbuk, Republic of Korea)
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Lee Y , et al. (2019) |
| Motor phenotype | NA | Not reported | NA | NA | Lee Y , et al. (2019) |
| Neuroanatomy / ultrastructure / cytoarchitecture | NA | Not reported | NA | NA | Lee Y , et al. (2019) |
| Neurophysiology | NA | Not reported | NA | NA | Lee Y , et al. (2019) |
| Repetitive behavior | Self grooming: perseveration | Restored | Grooming behavior assessments | Adult | Lee Y , et al. (2019) |
| Seizure | NA | Not reported | NA | NA | Lee Y , et al. (2019) |
| Sensory | NA | Not reported | NA | NA | Lee Y , et al. (2019) |
| Social behavior | Social memory | Refractory | U-field assay | Adult | Lee Y , et al. (2019) |
| Physiological parameters | NA | Not reported | NA | NA | Lee Y , et al. (2019) |
| Communications | NA | Not reported | NA | NA | Lee Y , et al. (2019) |
| Developmental profile | NA | Not reported | NA | NA | Lee Y , et al. (2019) |
| Emotion | NA | Not reported | NA | NA | Lee Y , et al. (2019) |
| Immune response | NA | Not reported | NA | NA | Lee Y , et al. (2019) |
| Learning & memory | Object recognition memory | Restored | Object preference test | Adult | Lee Y , et al. (2019) |
| Maternal behavior | NA | Not reported | NA | NA | Lee Y , et al. (2019) |
| Molecular profile | NA | Not reported | NA | NA | Lee Y , et al. (2019) |
M_MECP2_6_KD_SCH-23390
Model Type: RESCUE-Pharmaceutical
Model Genotype: Wildtype
Mutation:
SCH-23390 was administered intraperitoneally (i.p.) at the dose of 0.02 mg/kg, 30 min prior to the behavioral tests in M_MECP2_6_KD mice.
Allele Type: Knockdown
Strain of Origin: C57BL/6
Genetic Background: C57BL/6
Es cell line: NA
Model Source: Daehan BioLink (Eumsung, Chungbuk, Republic of Korea)
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Lee Y , et al. (2019) |
| Motor phenotype | NA | Not reported | NA | NA | Lee Y , et al. (2019) |
| Neuroanatomy / ultrastructure / cytoarchitecture | NA | Not reported | NA | NA | Lee Y , et al. (2019) |
| Neurophysiology | NA | Not reported | NA | NA | Lee Y , et al. (2019) |
| Repetitive behavior | Self grooming: perseveration | Refractory | Grooming behavior assessments | Adult | Lee Y , et al. (2019) |
| Seizure | NA | Not reported | NA | NA | Lee Y , et al. (2019) |
| Sensory | NA | Not reported | NA | NA | Lee Y , et al. (2019) |
| Social behavior | Social memory | Restored | U-field assay | Adult | Lee Y , et al. (2019) |
| Physiological parameters | NA | Not reported | NA | NA | Lee Y , et al. (2019) |
| Communications | NA | Not reported | NA | NA | Lee Y , et al. (2019) |
| Developmental profile | NA | Not reported | NA | NA | Lee Y , et al. (2019) |
| Emotion | NA | Not reported | NA | NA | Lee Y , et al. (2019) |
| Immune response | NA | Not reported | NA | NA | Lee Y , et al. (2019) |
| Learning & memory | Object recognition memory | Refractory | Object preference test | Adult | Lee Y , et al. (2019) |
| Maternal behavior | NA | Not reported | NA | NA | Lee Y , et al. (2019) |
| Molecular profile | NA | Not reported | NA | NA | Lee Y , et al. (2019) |
M_MECP2_6_KD_SCH-39166
Model Type: RESCUE-Pharmaceutical
Model Genotype: Wildtype
Mutation:
SCH-39166 was administered intraperitoneally (i.p.) at the dose of 0.02 mg/kg, 30 min prior to the behavioral tests in M_MECP2_6_KD mice.
Allele Type: Knockdown
Strain of Origin: C57BL/6
Genetic Background: C57BL/6
Es cell line: NA
Model Source: Daehan BioLink (Eumsung, Chungbuk, Republic of Korea)
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Lee Y , et al. (2019) |
| Motor phenotype | NA | Not reported | NA | NA | Lee Y , et al. (2019) |
| Neuroanatomy / ultrastructure / cytoarchitecture | NA | Not reported | NA | NA | Lee Y , et al. (2019) |
| Neurophysiology | NA | Not reported | NA | NA | Lee Y , et al. (2019) |
| Repetitive behavior | Self grooming: perseveration | Restored | Grooming behavior assessments | Adult | Lee Y , et al. (2019) |
| Seizure | NA | Not reported | NA | NA | Lee Y , et al. (2019) |
| Sensory | NA | Not reported | NA | NA | Lee Y , et al. (2019) |
| Social behavior | Social memory | Restored | U-field assay | Adult | Lee Y , et al. (2019) |
| Physiological parameters | NA | Not reported | NA | NA | Lee Y , et al. (2019) |
| Communications | NA | Not reported | NA | NA | Lee Y , et al. (2019) |
| Developmental profile | NA | Not reported | NA | NA | Lee Y , et al. (2019) |
| Emotion | NA | Not reported | NA | NA | Lee Y , et al. (2019) |
| Immune response | NA | Not reported | NA | NA | Lee Y , et al. (2019) |
| Learning & memory | Object recognition memory | Restored | Object preference test | Adult | Lee Y , et al. (2019) |
| Maternal behavior | NA | Not reported | NA | NA | Lee Y , et al. (2019) |
| Molecular profile | NA | Not reported | NA | NA | Lee Y , et al. (2019) |
M_MECP2_7_KI_HE_S80A
Model Type: Genetic
Model Genotype: Homozygous
Mutation:
Knock in of mutation of serine at position 80 to alanine in exon 3 of Mecp2 gene.
Allele Type: LOF knockin
Strain of Origin: C57/B6
Genetic Background: Not Specified
Es cell line: Not Specified
Model Source: Not Specified
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Tao J , et al. (2009) |
| Motor phenotype | General locomotor activity | Decreased | Running wheel test | Unreported | Tao J , et al. (2009) |
| Neuroanatomy / ultrastructure / cytoarchitecture | NA | Not reported | NA | NA | Tao J , et al. (2009) |
| Neurophysiology | NA | Not reported | NA | NA | Tao J , et al. (2009) |
| Repetitive behavior | NA | Not reported | NA | NA | Tao J , et al. (2009) |
| Seizure | NA | Not reported | NA | NA | Tao J , et al. (2009) |
| Sensory | NA | Not reported | NA | NA | Tao J , et al. (2009) |
| Social behavior | NA | Not reported | NA | NA | Tao J , et al. (2009) |
| Physiological parameters | NA | Not reported | NA | NA | Tao J , et al. (2009) |
| Communications | NA | Not reported | NA | NA | Tao J , et al. (2009) |
| Developmental profile | Size/growth | Increased | General observations | Unreported | Tao J , et al. (2009) |
| Emotion | NA | Not reported | NA | NA | Tao J , et al. (2009) |
| Immune response | NA | Not reported | NA | NA | Tao J , et al. (2009) |
| Learning & memory | NA | Not reported | NA | NA | Tao J , et al. (2009) |
| Maternal behavior | NA | Not reported | NA | NA | Tao J , et al. (2009) |
| Molecular profile | Transcriptome diversity | Abnormal | Western blot | Unreported | Tao J , et al. (2009) |
M_MECP2_8_CKD_HM_PYRAMIDALN-L2-3
Model Type: Genetic
Model Genotype: Homozygous
Mutation:
in utero transfection of short hairpin RNA mediated knock down of MeCP2 expression in a sparsely distributed subset of layer (L) 2/3 pyramidal neurons.
Allele Type: Knockdown
Strain of Origin: C57BL/6J
Genetic Background: Not Specified
Es cell line: Not Specified
Model Source: Not Specified
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Wood L , et al. (2009) |
| Motor phenotype | NA | Not reported | NA | NA | Wood L , et al. (2009) |
| Neuroanatomy / ultrastructure / cytoarchitecture | NA | Not reported | NA | NA | Wood L , et al. (2009) |
| Neurophysiology | Synaptic transmission: inhibitory | No change | Laser scanning photostimulation | Unreported | Wood L , et al. (2009) |
| Neurophysiology | Synaptic transmission: excitatory | Decreased | Laser scanning photostimulation | Unreported | Wood L , et al. (2009) |
| Neurophysiology | Membrane potential | No change | Whole-cell patch clamp | 3-4 weeks | Wood L , et al. (2009) |
| Neurophysiology | Intrinsic membrane properties | No change | Whole-cell patch clamp | 3-4 weeks | Wood L , et al. (2009) |
| Neurophysiology | Epsp-spike relationship | No change | Whole-cell patch clamp | 3-4 weeks | Wood L , et al. (2009) |
| Neurophysiology | Action potential property: firing rate | No change | Whole-cell patch clamp | 3-4 weeks | Wood L , et al. (2009) |
| Repetitive behavior | NA | Not reported | NA | NA | Wood L , et al. (2009) |
| Seizure | NA | Not reported | NA | NA | Wood L , et al. (2009) |
| Sensory | NA | Not reported | NA | NA | Wood L , et al. (2009) |
| Social behavior | NA | Not reported | NA | NA | Wood L , et al. (2009) |
| Physiological parameters | NA | Not reported | NA | NA | Wood L , et al. (2009) |
| Communications | NA | Not reported | NA | NA | Wood L , et al. (2009) |
| Developmental profile | NA | Not reported | NA | NA | Wood L , et al. (2009) |
| Emotion | NA | Not reported | NA | NA | Wood L , et al. (2009) |
| Immune response | NA | Not reported | NA | NA | Wood L , et al. (2009) |
| Learning & memory | NA | Not reported | NA | NA | Wood L , et al. (2009) |
| Maternal behavior | NA | Not reported | NA | NA | Wood L , et al. (2009) |
| Molecular profile | NA | Not reported | NA | NA | Wood L , et al. (2009) |
M_MECP2_9_PME
Model Type: Genetic
Model Genotype: Wildtype
Mutation:
Mice with locus-specific methylation at the transcription start site of Mecp2 were generated using nuclease-deactivated Cas9 (dCas9) fused with DNA methyltransferase catalytic domains. DNMT3L-DNMT3A-dCas9 or DNMT3LDNMT3A-mut- dCas9 plasmids were injected into zygotes from superovulated female C57BL/6 mice. (PME, promoter methylation).
Allele Type: Loss of function
Strain of Origin: C57BL/6
Genetic Background: C57BL/6
Es cell line: Not Specified
Model Source: PMID 32015323
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | () |
| Motor phenotype | General locomotor activity: ambulatory activity | Decreased | Open field test | 3-18 weeks | () |
| Neuroanatomy / ultrastructure / cytoarchitecture | NA | Not reported | NA | NA | () |
| Neurophysiology | NA | Not reported | NA | NA | () |
| Repetitive behavior | Self grooming: perseveration | Increased | Grooming behavior assessments | 3-18 weeks | () |
| Seizure | NA | Not reported | NA | NA | () |
| Sensory | NA | Not reported | NA | NA | () |
| Social behavior | Social transmission of food preference | Decreased | Social transmission of food preference | 3-18 weeks | () |
| Social behavior | Social memory | Decreased | Three-chamber social approach test | 3-18 weeks | () |
| Social behavior | Social approach | No change | Three-chamber social approach test | 3-18 weeks | () |
| Physiological parameters | NA | Not reported | NA | NA | () |
| Communications | NA | Not reported | NA | NA | () |
| Developmental profile | NA | Not reported | NA | NA | () |
| Emotion | Depression | Increased | Tail suspension test | 3-18 weeks | () |
| Emotion | Anxiety | Increased | Elevated plus maze test | 3-18 weeks | () |
| Immune response | NA | Not reported | NA | NA | () |
| Learning & memory | Object recognition memory | Decreased | Novel object recognition test | 3-18 weeks | () |
| Maternal behavior | NA | Not reported | NA | NA | () |
| Molecular profile | Targeted expression | Decreased | Quantitative pcr (qrt-pcr) | 3-18 weeks | () |
| Molecular profile | Targeted expression | Decreased | Immunofluorescence staining | 3-18 weeks | () |
| Molecular profile | Dna methylation | Increased | Cpg methylomics analysis | 3-18 weeks | () |
| Molecular profile | Dna methylation | No change | Cpg methylomics analysis | 3-18 weeks | () |
Other MECP2 Rescue Models(27 Models)
| M_MECP2_5_KO_HE | 1 | Genetic | Genetic | MECP2-dNIC |
| M_MECP2_5_KO_HT | 1 | Genetic | Pharmaceutical | RU-486 |
| M_MECP2_5_KO_HT | 1 | Genetic | Behavioral | training |
| M_MECP2_36_TG_7X | 1 | Genetic | Genetic | Reducing Mecp2 expression from transgene |
| M_MECP2_5.2_KO_HE | 1 | Genetic | Pharmaceutical | Cysteamine |
| M_MECP2_5.2_KO_HE | 1 | Genetic | Pharmaceutical | RU-486 |
| M_MECP2_1.2_KO_HE | 1 | Genetic | Pharmaceutical | CX-546 |
| M_MECP2_1.3_KO_HE | 1 | Genetic | Pharmaceutical | Acetyl-L-carnitine |
| M_MECP2_1.3_KO_HE | 1 | Genetic | Pharmaceutical | D-Cycloserine |
| M_MECP2_1.3_KO_HE | 1 | Genetic | Pharmaceutical | 7,8-Dihydroxyflavone |
| M_MECP2_34.1_TG_2X | 1 | Genetic | Pharmaceutical | Antalarmin |
| M_MECP2_34.1_TG_2X | 1 | Genetic | Genetic | one copy of Crh knocked out |
| M_MECP2_34.1_TG_2X | 1 | Genetic | Genetic | One copy of Crhr1 knocked out |
| M_MECP2_34.2_TG_2X | 1 | Genetic | Genetic | One copy of Oprm1 knocked out |
| M_MECP2_1.3_KO_HT | 1 | Genetic | Pharmaceutical | Acetyl-L-carnitine |
| M_MECP2_50_KI_HE_STOP | 1 | Genetic | Genetic | MECP2-dNIC |
| M_MECP2_6_KD | 1 | Genetic | Pharmaceutical | D-Cycloserine |
| M_MECP2_6_KD | 1 | Genetic | Pharmaceutical | Fenobam |
| M_MECP2_6_KD | 1 | Genetic | Pharmaceutical | SCH-23390 |
| M_MECP2_6_KD | 1 | Genetic | Pharmaceutical | SCH-39166 |
| M_MECP2_52_CKO_HE | 1 | Genetic | Pharmaceutical | Isoguvacine |
| M_MECP2_52_CKO_HE | 1 | Genetic | Pharmaceutical | Midazolam |
| M_MECP2_53_KO_HE | 2 | Genetic | Genetic | Reinstatement of Mecp2 |
| M_MECP2_57_KI_HE | 1 | Genetic | Genetic | Gabrb3 |
| M_MECP2_57_KI_HE | 1 | Genetic | Pharmaceutical | Isoguvacine |
| M_MECP2_58_KI_HT | 1 | Genetic | Pharmaceutical | Isoguvacine |
| M_MECP2_59_TG_2X | 1 | Genetic GOF | Pharmaceutical | SL327 |
CNVs associated with MECP2(1 Models)
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| Xq28 | 78 | Deletion-Duplication | 98 / 448 |