Genetic Mouse Models / MECP2

MECP2 methyl-CpG binding protein 2

Model Species
Mus musculus
Gene Aliases
1500041B07Rik, D630021H01Rik, Mbd5, WBP10
Reports
35
Associated Human Genes
MECP2
Models / Rescue Models
92 / 25
Rescue Model
-
Model Summary

Mecp2 duplication caused intellectual disability and autism; restoration of MeCP2 copy number in the adult abrogates the symptoms of autism.

Reports related to MECP2 (35 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> ()
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
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)
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)
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
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)
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)
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
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)
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)
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
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)
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)
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
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)
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)
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
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)
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)
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
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)
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)
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
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)
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)
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
Physiological parameters NA Not reported NA NA Schaevitz LR , et al. (2012)
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)
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
Physiological parameters NA Not reported NA NA Schaevitz LR , et al. (2012)
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)
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
Physiological parameters NA Not reported NA NA Chen RZ , et al. (2001)
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)
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
Physiological parameters NA Not reported NA NA ()
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 ()
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
Physiological parameters NA Not reported NA NA Pelka GJ , et al. (2006)
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)
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
Physiological parameters NA Not reported NA NA Jentarra GM , et al. (2010)
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)
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
Physiological parameters NA Not reported NA NA Jentarra GM , et al. (2010)
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)
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
Physiological parameters NA Not reported NA NA Chen RZ , et al. (2001)
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)
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
Physiological parameters NA Not reported NA NA Chen RZ , et al. (2001)
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)
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
Physiological parameters NA Not reported NA NA Goffin D , et al. (2011)
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)
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
Physiological parameters NA Not reported NA NA Goffin D , et al. (2011)
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)
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
Physiological parameters NA Not reported NA NA Woods R , et al. (2012)
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)
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
Physiological parameters NA Not reported NA NA Na ES , et al. (2012)
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)
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
Physiological parameters NA Not reported NA NA Samaco RC , et al. (2012)
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)
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
Physiological parameters NA Not reported NA NA Samaco RC , et al. (2012)
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)
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
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)
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)
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
Physiological parameters NA Not reported NA NA Samaco RC , et al. (2012)
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)
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
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)
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)
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
Physiological parameters NA Not reported NA NA Samaco RC , et al. (2012)
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)
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
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)
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)
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
Physiological parameters NA Not reported NA NA Samaco RC , et al. (2012)
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)
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
Physiological parameters NA Not reported NA NA Sztainberg Y , et al. (2015)
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)
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
Physiological parameters NA Not reported NA NA Samaco RC , et al. (2012)
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)
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
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)
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)
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
Physiological parameters NA Not reported NA NA Orefice LL , et al. (2016)
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)
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
Physiological parameters NA Not reported NA NA Orefice LL , et al. (2016)
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)
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
Physiological parameters NA Not reported NA NA Orefice LL , et al. (2016)
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)
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
Physiological parameters NA Not reported NA NA Tillotson R , et al. (2017)
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)
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
Physiological parameters NA Not reported NA NA Tillotson R , et al. (2017)
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)
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
Physiological parameters NA Not reported NA NA Tillotson R , et al. (2017)
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)
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
Physiological parameters NA Not reported NA NA Tillotson R , et al. (2017)
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)
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
Physiological parameters NA Not reported NA NA Woods R , et al. (2012)
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)
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
Physiological parameters NA Not reported NA NA Kloth AD , et al. (2015)
Physiological parameters NA Not reported NA NA Woods R , et al. (2012)
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)
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
Physiological parameters NA Not reported NA NA Orefice LL , et al. (2016)
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)
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
Physiological parameters NA Not reported NA NA Guy J , et al. (2001)
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)
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
Physiological parameters NA Not reported NA NA Orefice LL , et al. (2016)
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)
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
Physiological parameters NA Not reported NA NA Orefice LL , et al. (2016)
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)
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
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)
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)
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
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)
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)
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
Physiological parameters NA Not reported NA NA Orefice LL , et al. (2016)
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)
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
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)
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)
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
Physiological parameters NA Not reported NA NA Braun S , et al. (2011)
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)
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
Physiological parameters NA Not reported NA NA Braun S , et al. (2011)
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)
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
Physiological parameters NA Not reported NA NA Roux JC , et al. (2011)
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)
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
Physiological parameters NA Not reported NA NA Braun S , et al. (2011)
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)
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
Physiological parameters NA Not reported NA NA Braun S , et al. (2011)
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)
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
Physiological parameters NA Not reported NA NA Braun S , et al. (2011)
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)
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
Physiological parameters NA Not reported NA NA Braun S , et al. (2011)
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)
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
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)
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)
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
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)
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)
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
Physiological parameters NA Not reported NA NA Ito-Ishida A , et al. (2015)
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)
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
Physiological parameters NA Not reported NA NA Ito-Ishida A , et al. (2015)
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)
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: