Genetic Animal Models / FMR1

FMR1 fragile X mental retardation 1

Model Species
Mus musculus
Gene Aliases
FMRP; Fmr-1
Reports
35
Associated Human Genes
FMR1
Models / Rescue Models
54 / 17
Rescue Model
-
Model Summary

Fragile X Syndrome.

Reports related to FMR1 (35 Reports)
# Type Title Author, Year
1 Additional Deletion of FMR1 in Purkinje cells enhances parallel fiber LTD, enlarges spines, and attenuates cerebellar eyelid conditioning in Fragile X syndrome. Koekkoek SK , et al. (2005)
2 Additional Expression profiling suggests underexpression of the GABA(A) receptor subunit delta in the fragile X knockout mouse model. Gantois I , et al. (2005)
3 Additional The generation of a conditional Fmr1 knock out mouse model to study Fmrp function in vivo. Mientjes EJ , et al. (2005)
4 Additional Major defects in neocortical GABAergic inhibitory circuits in mice lacking the fragile X mental retardation protein. Selby L , et al. (2007)
5 Additional Fragile X mental retardation protein regulates the levels of scaffold proteins and glutamate receptors in postsynaptic densities. Schtt J , et al. (2009)
6 Additional Fragile X mental retardation protein is required for chemically-induced long-term potentiation of the hippocampus in adult mice. Shang Y , et al. (2009)
7 Additional Fmr1 knockout mice show reduced anxiety and alterations in neurogenesis that are specific to the ventral dentate gyrus. Eadie BD , et al. (2009)
8 Additional Lithium ameliorates altered glycogen synthase kinase-3 and behavior in a mouse model of fragile X syndrome. Yuskaitis CJ , et al. (2009)
9 Additional Altered neuroligin expression is involved in social deficits in a mouse model of the fragile X syndrome. Dahlhaus R and El-Husseini A (2009)
10 Additional A mouse model of the human Fragile X syndrome I304N mutation. Zang JB , et al. (2009)
11 Additional Dysregulation of mTOR signaling in fragile X syndrome. Sharma A , et al. (2010)
12 Additional GSK3 influences social preference and anxiety-related behaviors during social interaction in a mouse model of fragile X syndrome and autism. Mines MA , et al. (2010)
13 Additional A mouse model of the fragile X premutation: effects on behavior, dendrite morphology, and regional rates of cerebral protein synthesis. Qin M , et al. (2011)
14 Additional Hyperconnectivity and slow synapses during early development of medial prefrontal cortex in a mouse model for mental retardation and autism. Testa-Silva G , et al. (2011)
15 Additional Reversal of fragile X phenotypes by manipulation of APP/A levels in Fmr1KO mice. Westmark CJ , et al. (2011)
16 Additional The GABA(A) receptor agonist THIP ameliorates specific behavioral deficits in the mouse model of fragile X syndrome. Olmos-Serrano JL , et al. (2011)
17 Additional Minocycline treatment reverses ultrasonic vocalization production deficit in a mouse model of Fragile X Syndrome. Rotschafer SE , et al. (2012)
18 Additional Chronic pharmacological mGlu5 inhibition corrects fragile X in adult mice. Michalon A , et al. (2012)
19 Additional Activation of 5-HT7 serotonin receptors reverses metabotropic glutamate receptor-mediated synaptic plasticity in wild-type and Fmr1 knockout mice, ... Costa L , et al. (2012)
20 Additional Genetic removal of p70 S6 kinase 1 corrects molecular, synaptic, and behavioral phenotypes in fragile X syndrome mice. Bhattacharya A , et al. (2012)
21 Additional Reorganization of circuits underlying cerebellar modulation of prefrontal cortical dopamine in mouse models of autism spectrum disorder. Rogers TD , et al. (2013)
22 Additional Rescue of fragile X syndrome phenotypes in Fmr1 KO mice by the small-molecule PAK inhibitor FRAX486. Dolan BM , et al. (2013)
23 Additional Long-lasting effects of minocycline on behavior in young but not adult Fragile X mice. Dansie LE , et al. (2013)
24 Additional Pharmacological rescue of Ras signaling, GluA1-dependent synaptic plasticity, and learning deficits in a fragile X model. Lim CS , et al. (2014)
25 Additional Oxytocin-mediated GABA inhibition during delivery attenuates autism pathogenesis in rodent offspring. Tyzio R , et al. (2014)
26 Additional Hyperactivity and lack of social discrimination in the adolescent Fmr1 knockout mouse. Srensen EM , et al. (2015)
27 Additional Convergence of Hippocampal Pathophysiology in Syngap and Fmr1-/y Mice. Barnes SA , et al. (2015)
28 Additional Peripheral Mechanosensory Neuron Dysfunction Underlies Tactile and Behavioral Deficits in Mouse Models of ASDs. Orefice LL , et al. (2016)
29 Additional Excess Translation of Epigenetic Regulators Contributes to Fragile X Syndrome and Is Alleviated by Brd4 Inhibition. Korb E , et al. (2017)
30 Additional Adult Fmr1 knockout mice present with deficiencies in hippocampal interleukin-6 and tumor necrosis factor- expression. Hodges SL , et al. (2017)
31 Additional Chronic minocycline treatment improves hippocampal neuronal structure, NMDA receptor function, and memory processing in Fmr1 knockout mice. Yau SY , et al. (2018)
32 Additional Striatal Inhibition of MeCP2 or TSC1 Produces Sociability Deficits and Repetitive Behaviors. Lee Y , et al. (2019)
33 Additional Increased Excitation-Inhibition Ratio Stabilizes Synapse and Circuit Excitability in Four Autism Mouse Models. Antoine MW , et al. (2019)
34 Primary Fmr1 knockout mice: a model to study fragile X mental retardation. The Dutch-Belgian Fragile X Consortium. no authors (1994)
35 Primary Abnormal dendritic spines in fragile X knockout mice: maturation and pruning deficits. Comery TA , et al. (1997)
Show all Construct Details Show all Phenotypic Profiles

M_FMR1_10_KO_HM

Model Type: Genetic
Model Genotype: Homozygous

Mutation:

Purkinje cell specific knock out of FMR1, using L7-cre mice.

Allele Type: Knockout
Strain of Origin: -
Genetic Background: mixed

Es cell line: -
Model Source: -
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Circadian sleep/wake cycle - Not Reported - - Koekkoek SK , et al. (2005)
Motor phenotype Spontaneous Movement Increased Home cage behavior Unreported Koekkoek SK , et al. (2005)
Neuroanatomy / Ultrastructure / Cytoarchitecture Brain size No Change Measurement of tissue weight 2 months Koekkoek SK , et al. (2005)
Neurophysiology - Not Reported - - Koekkoek SK , et al. (2005)
Repetitive behavior - Not Reported - - Koekkoek SK , et al. (2005)
Seizure - Not Reported - - Koekkoek SK , et al. (2005)
Sensory - Not Reported - - Koekkoek SK , et al. (2005)
Social behavior Social interaction No Change Reciprocal social interaction test Unreported Koekkoek SK , et al. (2005)
Social behavior Social interaction Increased Light-dark exploration test: Light-dark exploration test Unreported Koekkoek SK , et al. (2005)
Communications - Not Reported - - Koekkoek SK , et al. (2005)
Developmental profile Size/growth Increased Measurement of tissue weight 5-7 weeks, 2.5 months; 3.5 months; 5.5 months Koekkoek SK , et al. (2005)
Developmental profile Reproductive system development No Change General observations Unreported Koekkoek SK , et al. (2005)
Emotion - Not Reported - - Koekkoek SK , et al. (2005)
Homeostasis - Not Reported - - Koekkoek SK , et al. (2005)
Immune response - Not Reported - - Koekkoek SK , et al. (2005)
Learning & memory Spatial learning No Change Morris water maze test Unreported Koekkoek SK , et al. (2005)
Learning & memory Spatial learning Decreased Morris water maze test Unreported Koekkoek SK , et al. (2005)
Learning & memory Cued or contextual fear conditioning No Change Fear conditioning test: contextual and acoustic cue-dependent Unreported Koekkoek SK , et al. (2005)
Maternal behavior - Not Reported - - Koekkoek SK , et al. (2005)
Molecular profile - Not Reported - - Koekkoek SK , et al. (2005)

M_FMR1_11_KO_HM

Model Type: Genetic
Model Genotype: Homozygous

Mutation:

FMR1 KO mice with a mixed FVB and 129P2 background(information not available for pde6b+.

Allele Type: Knockout
Strain of Origin: -
Genetic Background: FVB.129P2

Es cell line: -
Model Source: -
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Circadian sleep/wake cycle - Not Reported - - Sharma A , et al. (2010)
Motor phenotype - Not Reported - - Sharma A , et al. (2010)
Neuroanatomy / Ultrastructure / Cytoarchitecture - Not Reported - - Sharma A , et al. (2010)
Neurophysiology - Not Reported - - Sharma A , et al. (2010)
Repetitive behavior - Not Reported - - Sharma A , et al. (2010)
Seizure - Not Reported - - Sharma A , et al. (2010)
Sensory - Not Reported - - Sharma A , et al. (2010)
Social behavior - Not Reported - - Sharma A , et al. (2010)
Communications - Not Reported - - Sharma A , et al. (2010)
Developmental profile - Not Reported - - Sharma A , et al. (2010)
Emotion - Not Reported - - Sharma A , et al. (2010)
Homeostasis - Not Reported - - Sharma A , et al. (2010)
Immune response - Not Reported - - Sharma A , et al. (2010)
Learning & memory - Not Reported - - Sharma A , et al. (2010)
Maternal behavior - Not Reported - - Sharma A , et al. (2010)
Molecular profile Regulation of gene expression Increased Western blot: immunoprecipitation 4-6 weeks Sharma A , et al. (2010)
Molecular profile Protein phosphorylation No Change Western blot 4-6 weeks Sharma A , et al. (2010)
Molecular profile Protein phosphorylation Increased Western blot 4-6 weeks, 6-8 months Sharma A , et al. (2010)
Molecular profile Protein expression level evidence No Change Western blot 4-6 weeks; 6-8 months Sharma A , et al. (2010)
Molecular profile Enzyme activity No Change Western blot: immunoprecipitation 4-6 weeks Sharma A , et al. (2010)
Molecular profile Enzyme activity Increased Western blot: immunoprecipitation 4-6 weeks Sharma A , et al. (2010)

M_FMR1_12_KO_HM

Model Type: Genetic
Model Genotype: Homozygous; hemizygous

Mutation:

FMR1 knockout mice on the FVB/NJ background. (Construct details not available).

Allele Type: Knockout
Strain of Origin: Not Specified
Genetic Background: FVB/NJ

Es cell line: Not Specified
Model Source: Lugo Lab, Baylor University (PMID 28915148)
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Circadian sleep/wake cycle - Not Reported - - Hodges SL , et al. (2017)
Motor phenotype - Not Reported - - Hodges SL , et al. (2017)
Neuroanatomy / Ultrastructure / Cytoarchitecture - Not Reported - - Hodges SL , et al. (2017)
Neurophysiology - Not Reported - - Hodges SL , et al. (2017)
Repetitive behavior - Not Reported - - Hodges SL , et al. (2017)
Seizure - Not Reported - - Hodges SL , et al. (2017)
Sensory - Not Reported - - Hodges SL , et al. (2017)
Social behavior - Not Reported - - Hodges SL , et al. (2017)
Communications - Not Reported - - Hodges SL , et al. (2017)
Developmental profile - Not Reported - - Hodges SL , et al. (2017)
Emotion - Not Reported - - Hodges SL , et al. (2017)
Homeostasis - Not Reported - - Hodges SL , et al. (2017)
Immune response Cytokine levels: pro-inflammatory No Change Quantitative PCR (qRT-PCR) Adult Hodges SL , et al. (2017)
Immune response Cytokine levels: pro-inflammatory Decreased Quantitative PCR (qRT-PCR) Adult Hodges SL , et al. (2017)
Immune response Cytokine levels: chemokine No Change Quantitative PCR (qRT-PCR) Adult Hodges SL , et al. (2017)
Immune response Cytokine levels: anti-inflammatory No Change Quantitative PCR (qRT-PCR) Adult Hodges SL , et al. (2017)
Learning & memory - Not Reported - - Hodges SL , et al. (2017)
Maternal behavior - Not Reported - - Hodges SL , et al. (2017)
Molecular profile - Not Reported - - Hodges SL , et al. (2017)

M_FMR1_13_KD

Model Type: Genetic
Model Genotype: Wildtype

Mutation:

Seven-week-old wildtype C57BL/6 male mice were injected with Fmr1-siRNA (1358762, NM_008031.2), bilaterally in the dorsal striatum using a stereotaxic apparatus, resulting in a reduction of Fmr1 transcript levels to 0.4 fold compared with control siRNA injected mice.

Allele Type: Knockdown
Strain of Origin: C57BL/6
Genetic Background: C57BL/6

Es cell line: NA
Model Source: Daehan BioLink (Eumsung, Chungbuk, Republic of Korea)
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Circadian sleep/wake cycle - Not Reported - - Lee Y , et al. (2019)
Motor phenotype - Not Reported - - Lee Y , et al. (2019)
Neuroanatomy / Ultrastructure / Cytoarchitecture - Not Reported - - Lee Y , et al. (2019)
Neurophysiology - Not Reported - - Lee Y , et al. (2019)
Repetitive behavior Self grooming: perseveration No Change Grooming behavior assessments Adult Lee Y , et al. (2019)
Repetitive behavior Repetitive digging No Change Home cage behavior Adult Lee Y , et al. (2019)
Seizure - Not Reported - - Lee Y , et al. (2019)
Sensory - Not Reported - - Lee Y , et al. (2019)
Social behavior Social memory Decreased U-field assay Adult Lee Y , et al. (2019)
Communications - Not Reported - - Lee Y , et al. (2019)
Developmental profile - Not Reported - - Lee Y , et al. (2019)
Emotion - Not Reported - - Lee Y , et al. (2019)
Homeostasis - Not Reported - - Lee Y , et al. (2019)
Immune response - Not Reported - - Lee Y , et al. (2019)
Learning & memory Object recognition memory Decreased Object preference test Adult Lee Y , et al. (2019)
Maternal behavior - Not Reported - - Lee Y , et al. (2019)
Molecular profile Targeted expression Decreased Quantitative PCR (qRT-PCR) Adult Lee Y , et al. (2019)

M_FMR1_1_KO_HM

Model Type: Genetic
Model Genotype: Homozygous; hemizygous

Mutation:

FMR1 mutant gene was generated by construction a targeting vector using homologous recombination against Exon 5 which was interrupted by the positive selection marker gene neomycin (neo). FMR1 homozygous knockout mice (FMR1^tm1Cgr) were bred with NeuroD1 bacTRAP (ND1-BT) heterozygous mice (PMID 28823556) to generate FMR1 and ND-BT1 dual heterozygous female mice that were bred with FMR1-/y male mice to generate FMR1 null and ND1-BT heterozygous (FMR1-/-;ND1-BT+/-) that were used for experimentations.

Allele Type: Knockout
Strain of Origin: 129P2/OlaHsd
Genetic Background: C57BL/6J

Es cell line: E14
Model Source: The Jackson Laboratory
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Physiological parameters Hormone levels No Change ELISA Unreported Eadie BD , et al. (2009)
Physiological parameters Hormone levels Decreased ELISA Unreported Eadie BD , et al. (2009)
Circadian sleep/wake cycle - Not Reported - - Comery TA , et al. (1997)
Circadian sleep/wake cycle - Not Reported - - Yau SY , et al. (2018)
Circadian sleep/wake cycle - Not Reported - - Korb E , et al. (2017)
Circadian sleep/wake cycle - Not Reported - - Srensen EM , et al. (2015)
Circadian sleep/wake cycle - Not Reported - - Lim CS , et al. (2014)
Circadian sleep/wake cycle - Not Reported - - Rogers TD , et al. (2013)
Circadian sleep/wake cycle - Not Reported - - Michalon A , et al. (2012)
Circadian sleep/wake cycle - Not Reported - - Rotschafer SE , et al. (2012)
Circadian sleep/wake cycle - Not Reported - - Westmark CJ , et al. (2011)
Circadian sleep/wake cycle - Not Reported - - Testa-Silva G , et al. (2011)
Circadian sleep/wake cycle - Not Reported - - Mines MA , et al. (2010)
Circadian sleep/wake cycle - Not Reported - - Dahlhaus R and El-Husseini A (2009)
Circadian sleep/wake cycle - Not Reported - - Eadie BD , et al. (2009)
Circadian sleep/wake cycle - Not Reported - - Schtt J , et al. (2009)
Circadian sleep/wake cycle - Not Reported - - Gantois I , et al. (2005)
Motor phenotype - Not Reported - - Comery TA , et al. (1997)
Motor phenotype - Not Reported - - Yau SY , et al. (2018)
Motor phenotype General locomotor activity: Ambulatory activity No Change Open field test 5 weeks Korb E , et al. (2017)
Motor phenotype General locomotor activity: Ambulatory activity Increased Open field test 4-8 weeks Korb E , et al. (2017)
Motor phenotype General locomotor activity: Ambulatory activity Increased Novel object recognition test 4-8 weeks Korb E , et al. (2017)
Motor phenotype Hyperactivity Increased Open field test 7-10 weeks Srensen EM , et al. (2015)
Motor phenotype Hyperactivity Increased Three-chamber social approach test 7-10 weeks Srensen EM , et al. (2015)
Motor phenotype - Not Reported - - Lim CS , et al. (2014)
Motor phenotype - Not Reported - - Rogers TD , et al. (2013)
Motor phenotype General locomotor activity Increased Open field test 2-5 months Michalon A , et al. (2012)
Motor phenotype - Not Reported - - Rotschafer SE , et al. (2012)
Motor phenotype General locomotor activity No Change Open field test Unreported Westmark CJ , et al. (2011)
Motor phenotype - Not Reported - - Testa-Silva G , et al. (2011)
Motor phenotype - Not Reported - - Mines MA , et al. (2010)
Motor phenotype Swimming ability Increased Swim test 2.5 - 6 months Dahlhaus R and El-Husseini A (2009)
Motor phenotype General locomotor activity Increased Open field test 2.5 - 6 months Dahlhaus R and El-Husseini A (2009)
Motor phenotype General locomotor activity No Change Open field test Unreported Eadie BD , et al. (2009)
Motor phenotype - Not Reported - - Schtt J , et al. (2009)
Motor phenotype - Not Reported - - Gantois I , et al. (2005)
Neuroanatomy / Ultrastructure / Cytoarchitecture Dendritic architecture: spine density Increased Immunohistochemistry: fluorescence 8 weeks Comery TA , et al. (1997)
Neuroanatomy / Ultrastructure / Cytoarchitecture Neuroreceptor levels: glutamate receptors: NMDA receptors Decreased Western blot: Fractionation: synaptoneurosome fraction Adult Yau SY , et al. (2018)
Neuroanatomy / Ultrastructure / Cytoarchitecture Dendritic architecture: dendritic tree complexity Decreased Sholl analysis Adult Yau SY , et al. (2018)
Neuroanatomy / Ultrastructure / Cytoarchitecture Dendritic architecture: dendritic length Decreased Sholl analysis Adult Yau SY , et al. (2018)
Neuroanatomy / Ultrastructure / Cytoarchitecture Dendritic architecture: spine density Increased Immunohistochemistry 4-8 weeks Korb E , et al. (2017)
Neuroanatomy / Ultrastructure / Cytoarchitecture - Not Reported - - Srensen EM , et al. (2015)
Neuroanatomy / Ultrastructure / Cytoarchitecture - Not Reported - - Lim CS , et al. (2014)
Neuroanatomy / Ultrastructure / Cytoarchitecture - Not Reported - - Rogers TD , et al. (2013)
Neuroanatomy / Ultrastructure / Cytoarchitecture Dendritic architecture: spine density Increased Golgi-Cox staining Unreported Michalon A , et al. (2012)
Neuroanatomy / Ultrastructure / Cytoarchitecture - Not Reported - - Rotschafer SE , et al. (2012)
Neuroanatomy / Ultrastructure / Cytoarchitecture - Not Reported - - Westmark CJ , et al. (2011)
Neuroanatomy / Ultrastructure / Cytoarchitecture - Not Reported - - Testa-Silva G , et al. (2011)
Neuroanatomy / Ultrastructure / Cytoarchitecture - Not Reported - - Mines MA , et al. (2010)
Neuroanatomy / Ultrastructure / Cytoarchitecture Synapse density Increased Immunohistochemistry: fluorescence 2.5 - 6 months Dahlhaus R and El-Husseini A (2009)
Neuroanatomy / Ultrastructure / Cytoarchitecture Synapse density Decreased Immunohistochemistry: fluorescence 2.5 - 6 months Dahlhaus R and El-Husseini A (2009)
Neuroanatomy / Ultrastructure / Cytoarchitecture Brain development No Change Immunohistochemistry Unreported Eadie BD , et al. (2009)
Neuroanatomy / Ultrastructure / Cytoarchitecture Brain development Decreased Immunohistochemistry Unreported Eadie BD , et al. (2009)
Neuroanatomy / Ultrastructure / Cytoarchitecture - Not Reported - - Schtt J , et al. (2009)
Neuroanatomy / Ultrastructure / Cytoarchitecture - Not Reported - - Gantois I , et al. (2005)
Neurophysiology - Not Reported - - Comery TA , et al. (1997)
Neurophysiology Synaptic neuroreceptor ratio (NMDAR/AMPAR) dependent transmission Decreased Whole-cell voltage clamp Adult Yau SY , et al. (2018)
Neurophysiology Miniature post synaptic current amplitude: excitatory No Change Whole-cell voltage clamp Adult Yau SY , et al. (2018)
Neurophysiology Miniature post synaptic current amplitude: excitatory Decreased Whole-cell voltage clamp Adult Yau SY , et al. (2018)
Neurophysiology EPSP-spike relationship No Change Whole-cell voltage clamp Adult Yau SY , et al. (2018)
Neurophysiology EPSP-spike relationship Decreased Whole-cell voltage clamp Adult Yau SY , et al. (2018)
Neurophysiology - Not Reported - - Korb E , et al. (2017)
Neurophysiology Neurotransmitter release: catecholamines Increased High-performance liquid chromatography (HPLC): Striatum 7-10 weeks Srensen EM , et al. (2015)
Neurophysiology - Not Reported - - Lim CS , et al. (2014)
Neurophysiology Neurotransmitter release: catecholamines No Change In vivo amperometry: fixed potential amperometry Unreported Rogers TD , et al. (2013)
Neurophysiology Neurotransmitter release: catecholamines Decreased In vivo amperometry: fixed potential amperometry Unreported Rogers TD , et al. (2013)
Neurophysiology Neurotransmitter release: catecholamines Decreased In vivo amperometry: fixed potential amperometry Unreported Rogers TD , et al. (2013)
Neurophysiology Synaptic plasticity: LTD Increased Field potential recordings 3-4 weeks Michalon A , et al. (2012)
Neurophysiology Synaptic plasticity Increased Field potential recordings 2 months Michalon A , et al. (2012)
Neurophysiology - Not Reported - - Rotschafer SE , et al. (2012)
Neurophysiology Synaptic plasticity Increased Field potential recordings 3 months Westmark CJ , et al. (2011)
Neurophysiology Presynaptic function: paired-pulse facilitation No Change Paired-pulse ratio Unreported Westmark CJ , et al. (2011)
Neurophysiology Synaptic transmission No Change Whole-cell patch clamp 4-5 weeks Testa-Silva G , et al. (2011)
Neurophysiology Synaptic transmission Increased Whole-cell patch clamp Unreported Testa-Silva G , et al. (2011)
Neurophysiology Synaptic plasticity: LTD No Change Whole-cell patch clamp: layer V pyramidal neurons 4-5 weeks Testa-Silva G , et al. (2011)
Neurophysiology Synaptic plasticity: LTD Decreased Whole-cell patch clamp: layer V pyramidal neurons Unreported Testa-Silva G , et al. (2011)
Neurophysiology - Not Reported - - Mines MA , et al. (2010)
Neurophysiology - Not Reported - - Dahlhaus R and El-Husseini A (2009)
Neurophysiology - Not Reported - - Eadie BD , et al. (2009)
Neurophysiology - Not Reported - - Schtt J , et al. (2009)
Neurophysiology - Not Reported - - Gantois I , et al. (2005)
Repetitive behavior - Not Reported - - Comery TA , et al. (1997)
Repetitive behavior - Not Reported - - Yau SY , et al. (2018)
Repetitive behavior Repetitive digging Increased Marble-burying test 4.3 weeks, 6-8 weeks Korb E , et al. (2017)
Repetitive behavior Repetitive digging No Change Marble-burying test 4-6 weeks Srensen EM , et al. (2015)
Repetitive behavior - Not Reported - - Lim CS , et al. (2014)
Repetitive behavior - Not Reported - - Rogers TD , et al. (2013)
Repetitive behavior - Not Reported - - Michalon A , et al. (2012)
Repetitive behavior - Not Reported - - Rotschafer SE , et al. (2012)
Repetitive behavior Repetitive digging Decreased Marble-burying test 8-10 weeks Westmark CJ , et al. (2011)
Repetitive behavior - Not Reported - - Testa-Silva G , et al. (2011)
Repetitive behavior - Not Reported - - Mines MA , et al. (2010)
Repetitive behavior - Not Reported - - Dahlhaus R and El-Husseini A (2009)
Repetitive behavior - Not Reported - - Eadie BD , et al. (2009)
Repetitive behavior - Not Reported - - Schtt J , et al. (2009)
Repetitive behavior - Not Reported - - Gantois I , et al. (2005)
Seizure - Not Reported - - Comery TA , et al. (1997)
Seizure - Not Reported - - Yau SY , et al. (2018)
Seizure - Not Reported - - Korb E , et al. (2017)
Seizure - Not Reported - - Srensen EM , et al. (2015)
Seizure - Not Reported - - Lim CS , et al. (2014)
Seizure - Not Reported - - Rogers TD , et al. (2013)
Seizure Seizures Increased Acoustic startle reflex test: white noise stimulus Unreported Michalon A , et al. (2012)
Seizure - Not Reported - - Rotschafer SE , et al. (2012)
Seizure Seizures Increased Audiogenic Seizure test P21 Westmark CJ , et al. (2011)
Seizure - Not Reported - - Testa-Silva G , et al. (2011)
Seizure - Not Reported - - Mines MA , et al. (2010)
Seizure - Not Reported - - Dahlhaus R and El-Husseini A (2009)
Seizure - Not Reported - - Eadie BD , et al. (2009)
Seizure - Not Reported - - Schtt J , et al. (2009)
Seizure - Not Reported - - Gantois I , et al. (2005)
Sensory - Not Reported - - Comery TA , et al. (1997)
Sensory - Not Reported - - Yau SY , et al. (2018)
Sensory - Not Reported - - Korb E , et al. (2017)
Sensory - Not Reported - - Srensen EM , et al. (2015)
Sensory - Not Reported - - Lim CS , et al. (2014)
Sensory - Not Reported - - Rogers TD , et al. (2013)
Sensory Startle response: acoustic stimulus Increased Acoustic startle reflex test: white noise stimulus Unreported Michalon A , et al. (2012)
Sensory - Not Reported - - Rotschafer SE , et al. (2012)
Sensory - Not Reported - - Westmark CJ , et al. (2011)
Sensory - Not Reported - - Testa-Silva G , et al. (2011)
Sensory - Not Reported - - Mines MA , et al. (2010)
Sensory - Not Reported - - Dahlhaus R and El-Husseini A (2009)
Sensory - Not Reported - - Eadie BD , et al. (2009)
Sensory - Not Reported - - Schtt J , et al. (2009)
Sensory - Not Reported - - Gantois I , et al. (2005)
Social behavior - Not Reported - - Comery TA , et al. (1997)
Social behavior - Not Reported - - Yau SY , et al. (2018)
Social behavior Social approach Increased Three-chamber social approach test 4.3 weeks, 6-8 weeks Korb E , et al. (2017)
Social behavior Social memory Decreased Three-chamber social approach test 7-10 weeks Srensen EM , et al. (2015)
Social behavior Social approach No Change Three-chamber social approach test 7-10 weeks Srensen EM , et al. (2015)
Social behavior - Not Reported - - Lim CS , et al. (2014)
Social behavior - Not Reported - - Rogers TD , et al. (2013)
Social behavior - Not Reported - - Michalon A , et al. (2012)
Social behavior Mating behavior No Change Reciprocal social interaction test: male-female interaction Unreported Rotschafer SE , et al. (2012)
Social behavior - Not Reported - - Westmark CJ , et al. (2011)
Social behavior - Not Reported - - Testa-Silva G , et al. (2011)
Social behavior Social memory Decreased Three-chamber social approach test: sociability 3 months Mines MA , et al. (2010)
Social behavior Social interaction No Change Three-chamber social approach test 3 months Mines MA , et al. (2010)
Social behavior Social interaction No Change Three-chamber social approach test 3 months Mines MA , et al. (2010)
Social behavior Social interaction No Change Three-chamber social approach test 3 months Mines MA , et al. (2010)
Social behavior Social interaction Increased Three-chamber social approach test 3 months Mines MA , et al. (2010)
Social behavior Social interaction Increased Three-chamber social approach test 3 months Mines MA , et al. (2010)
Social behavior Social interaction Decreased Three-chamber social approach test 3 months Mines MA , et al. (2010)
Social behavior Social approach No Change Three-chamber social approach test 3 months Mines MA , et al. (2010)
Social behavior Social approach No Change Three-chamber social approach test 3 months Mines MA , et al. (2010)
Social behavior Social approach Increased Three-chamber social approach test 3 months Mines MA , et al. (2010)
Social behavior Self grooming: social context No Change Three-chamber social approach test 3 months Mines MA , et al. (2010)
Social behavior Social interaction Decreased Reciprocal social interaction test 2.5 - 6 months Dahlhaus R and El-Husseini A (2009)
Social behavior Social interaction Decreased Reciprocal social interaction test 2-6 months Dahlhaus R and El-Husseini A (2009)
Social behavior Social interaction Decreased Resident-intruder test 2-6 months Dahlhaus R and El-Husseini A (2009)
Social behavior Aggression No Change Resident-intruder test 2.5 - 6 months Dahlhaus R and El-Husseini A (2009)
Social behavior - Not Reported - - Eadie BD , et al. (2009)
Social behavior - Not Reported - - Schtt J , et al. (2009)
Social behavior - Not Reported - - Gantois I , et al. (2005)
Communications - Not Reported - - Comery TA , et al. (1997)
Communications - Not Reported - - Yau SY , et al. (2018)
Communications - Not Reported - - Korb E , et al. (2017)
Communications - Not Reported - - Srensen EM , et al. (2015)
Communications Ultrasonic vocalization No Change Monitoring ultrasonic vocalizations Unreported Lim CS , et al. (2014)
Communications - Not Reported - - Rogers TD , et al. (2013)
Communications - Not Reported - - Michalon A , et al. (2012)
Communications Ultrasonic vocalization Decreased Monitoring ultrasonic vocalizations: reciprocal social interaction test: male-female Unreported Rotschafer SE , et al. (2012)
Communications - Not Reported - - Westmark CJ , et al. (2011)
Communications - Not Reported - - Testa-Silva G , et al. (2011)
Communications - Not Reported - - Mines MA , et al. (2010)
Communications - Not Reported - - Dahlhaus R and El-Husseini A (2009)
Communications - Not Reported - - Eadie BD , et al. (2009)
Communications - Not Reported - - Schtt J , et al. (2009)
Communications - Not Reported - - Gantois I , et al. (2005)
Developmental profile - Not Reported - - Comery TA , et al. (1997)
Developmental profile - Not Reported - - Yau SY , et al. (2018)
Developmental profile - Not Reported - - Korb E , et al. (2017)
Developmental profile - Not Reported - - Srensen EM , et al. (2015)
Developmental profile - Not Reported - - Lim CS , et al. (2014)
Developmental profile - Not Reported - - Rogers TD , et al. (2013)
Developmental profile Tissue weight Increased General observations 5-17 weeks Michalon A , et al. (2012)
Developmental profile - Not Reported - - Rotschafer SE , et al. (2012)
Developmental profile - Not Reported - - Westmark CJ , et al. (2011)
Developmental profile - Not Reported - - Testa-Silva G , et al. (2011)
Developmental profile - Not Reported - - Mines MA , et al. (2010)
Developmental profile Size/growth Increased General observations 2.5 - 6 months Dahlhaus R and El-Husseini A (2009)
Developmental profile Mortality/lethality No Change General observations 2.5 - 6 months Dahlhaus R and El-Husseini A (2009)
Developmental profile - Not Reported - - Eadie BD , et al. (2009)
Developmental profile - Not Reported - - Schtt J , et al. (2009)
Developmental profile - Not Reported - - Gantois I , et al. (2005)
Emotion - Not Reported - - Comery TA , et al. (1997)
Emotion Exploratory activity: Habituation No Change Object-place recognition test Adult Yau SY , et al. (2018)
Emotion Depression No Change Forced swim test Adult Yau SY , et al. (2018)
Emotion Depression No Change Tail suspension test Adult Yau SY , et al. (2018)
Emotion Anxiety No Change Open field test Adult Yau SY , et al. (2018)
Emotion Anxiety No Change Open field test 6-8 weeks Korb E , et al. (2017)
Emotion Anxiety Increased Open field test 5 weeks Korb E , et al. (2017)
Emotion Anxiety Increased Open field test: counting faecal boli 7-10 weeks Srensen EM , et al. (2015)
Emotion Anxiety Decreased Elevated plus maze test P29 Lim CS , et al. (2014)
Emotion Anxiety Decreased Light-dark exploration test: Light-dark exploration test P29 Lim CS , et al. (2014)
Emotion - Not Reported - - Rogers TD , et al. (2013)
Emotion - Not Reported - - Michalon A , et al. (2012)
Emotion - Not Reported - - Rotschafer SE , et al. (2012)
Emotion Anxiety Decreased Open field test Unreported Westmark CJ , et al. (2011)
Emotion - Not Reported - - Testa-Silva G , et al. (2011)
Emotion Anxiety Increased Three-chamber social approach test 3 months Mines MA , et al. (2010)
Emotion Anxiety Decreased Three-chamber social approach test 3 months Mines MA , et al. (2010)
Emotion - Not Reported - - Dahlhaus R and El-Husseini A (2009)
Emotion Anxiety Decreased Elevated plus maze test 2-4 months Eadie BD , et al. (2009)
Emotion Anxiety Decreased Open field test 2-4 months Eadie BD , et al. (2009)
Emotion - Not Reported - - Schtt J , et al. (2009)
Emotion - Not Reported - - Gantois I , et al. (2005)
Homeostasis - Not Reported - - Comery TA , et al. (1997)
Homeostasis - Not Reported - - Yau SY , et al. (2018)
Homeostasis - Not Reported - - Korb E , et al. (2017)
Homeostasis - Not Reported - - Srensen EM , et al. (2015)
Homeostasis - Not Reported - - Lim CS , et al. (2014)
Homeostasis - Not Reported - - Rogers TD , et al. (2013)
Homeostasis - Not Reported - - Michalon A , et al. (2012)
Homeostasis - Not Reported - - Rotschafer SE , et al. (2012)
Homeostasis - Not Reported - - Westmark CJ , et al. (2011)
Homeostasis - Not Reported - - Testa-Silva G , et al. (2011)
Homeostasis - Not Reported - - Mines MA , et al. (2010)
Homeostasis - Not Reported - - Dahlhaus R and El-Husseini A (2009)
Homeostasis - Not Reported - - Eadie BD , et al. (2009)
Homeostasis - Not Reported - - Schtt J , et al. (2009)
Homeostasis - Not Reported - - Gantois I , et al. (2005)
Immune response - Not Reported - - Comery TA , et al. (1997)
Immune response - Not Reported - - Yau SY , et al. (2018)
Immune response - Not Reported - - Korb E , et al. (2017)
Immune response - Not Reported - - Srensen EM , et al. (2015)
Immune response - Not Reported - - Lim CS , et al. (2014)
Immune response - Not Reported - - Rogers TD , et al. (2013)
Immune response - Not Reported - - Michalon A , et al. (2012)
Immune response - Not Reported - - Rotschafer SE , et al. (2012)
Immune response - Not Reported - - Westmark CJ , et al. (2011)
Immune response - Not Reported - - Testa-Silva G , et al. (2011)
Immune response - Not Reported - - Mines MA , et al. (2010)
Immune response - Not Reported - - Dahlhaus R and El-Husseini A (2009)
Immune response - Not Reported - - Eadie BD , et al. (2009)
Immune response - Not Reported - - Schtt J , et al. (2009)
Immune response - Not Reported - - Gantois I , et al. (2005)
Learning & memory Spatial reference memory Decreased Object-place recognition test Adult Yau SY , et al. (2018)
Learning & memory Reward reinforced choice behavior Decreased Y-maze test: appetitively motivated P29 Lim CS , et al. (2014)
Learning & memory Spatial learning No Change Morris water maze test 2.5 - 6 months Dahlhaus R and El-Husseini A (2009)
Learning & memory Spatial reference memory No Change Morris water maze test 2-4 months Eadie BD , et al. (2009)
Learning & memory Spatial reference memory No Change Plus-shaped water maze test 2-4 months Eadie BD , et al. (2009)
Learning & memory - Not Reported - - Comery TA , et al. (1997)
Learning & memory Procedural learning No Change Novel object recognition test: modified Adult Yau SY , et al. (2018)
Learning & memory Object recognition memory Decreased Novel object recognition test Adult Yau SY , et al. (2018)
Learning & memory Object recognition memory Decreased Novel object recognition test 4-8 weeks Korb E , et al. (2017)
Learning & memory - Not Reported - - Srensen EM , et al. (2015)
Learning & memory Eye blink conditioning Decreased Eyeblink conditioning Unreported Lim CS , et al. (2014)
Learning & memory Cued or contextual fear conditioning Decreased Fear conditioning test: trace P29 Lim CS , et al. (2014)
Learning & memory Cued or contextual fear conditioning Decreased Fear conditioning test: contextual P29 Lim CS , et al. (2014)
Learning & memory - Not Reported - - Rogers TD , et al. (2013)
Learning & memory Cued or contextual fear conditioning: Memory of cue Decreased Passive avoidance test Unreported Michalon A , et al. (2012)
Learning & memory - Not Reported - - Rotschafer SE , et al. (2012)
Learning & memory - Not Reported - - Westmark CJ , et al. (2011)
Learning & memory - Not Reported - - Testa-Silva G , et al. (2011)
Learning & memory - Not Reported - - Mines MA , et al. (2010)
Learning & memory Object recognition memory No Change Novel object recognition test 2.5 - 6 months Dahlhaus R and El-Husseini A (2009)
Learning & memory - Not Reported - - Schtt J , et al. (2009)
Learning & memory - Not Reported - - Gantois I , et al. (2005)
Maternal behavior - Not Reported - - Comery TA , et al. (1997)
Maternal behavior - Not Reported - - Yau SY , et al. (2018)
Maternal behavior - Not Reported - - Korb E , et al. (2017)
Maternal behavior - Not Reported - - Srensen EM , et al. (2015)
Maternal behavior - Not Reported - - Lim CS , et al. (2014)
Maternal behavior - Not Reported - - Rogers TD , et al. (2013)
Maternal behavior - Not Reported - - Michalon A , et al. (2012)
Maternal behavior - Not Reported - - Rotschafer SE , et al. (2012)
Maternal behavior - Not Reported - - Westmark CJ , et al. (2011)
Maternal behavior - Not Reported - - Testa-Silva G , et al. (2011)
Maternal behavior - Not Reported - - Mines MA , et al. (2010)
Maternal behavior - Not Reported - - Dahlhaus R and El-Husseini A (2009)
Maternal behavior - Not Reported - - Eadie BD , et al. (2009)
Maternal behavior - Not Reported - - Schtt J , et al. (2009)
Maternal behavior - Not Reported - - Gantois I , et al. (2005)
Molecular profile - Not Reported - - Comery TA , et al. (1997)
Molecular profile Protein phosphorylation Increased Western blot Adult Yau SY , et al. (2018)
Molecular profile Protein localization: synapse Decreased Western blot: Fractionation: synaptoneurosome fraction Adult Yau SY , et al. (2018)
Molecular profile Regulation of gene expression Abnormal RNA sequencing 2.1 weeks Korb E , et al. (2017)
Molecular profile Protein-DNA complex assembly Increased Quantitative PCR (qRT-PCR): chromatin immunoprecipitation (ChIP) 2.1 weeks Korb E , et al. (2017)
Molecular profile Protein phosphorylation Increased Western blot 2.1 weeks Korb E , et al. (2017)
Molecular profile Protein expression level evidence Increased Western blot: chromatin immunoprecipitation (ChIP) 2.1 weeks Korb E , et al. (2017)
Molecular profile Gene expression Increased Quantitative PCR (qRT-PCR) Not specified Korb E , et al. (2017)
Molecular profile Chromatin modification: Histone modification: Open chromatin Increased Chromatin immunoprecipitation sequencing (ChIP-seq) 2.1 weeks Korb E , et al. (2017)
Molecular profile Chromatin modification No Change Chromatin immunoprecipitation sequencing (ChIP-seq) 2.1 weeks Korb E , et al. (2017)
Molecular profile - Not Reported - - Srensen EM , et al. (2015)
Molecular profile Signaling Decreased Western blot P14, P29 Lim CS , et al. (2014)
Molecular profile Protein modification process Increased Western blot P14, P29 Lim CS , et al. (2014)
Molecular profile - Not Reported - - Rogers TD , et al. (2013)
Molecular profile Signaling Decreased Western blot Unreported Michalon A , et al. (2012)
Molecular profile Regulation of translation Increased Metabolic labeling of proteins Unreported Michalon A , et al. (2012)
Molecular profile - Not Reported - - Rotschafer SE , et al. (2012)
Molecular profile Protein expression level evidence Increased Western blot 1 month Westmark CJ , et al. (2011)
Molecular profile - Not Reported - - Testa-Silva G , et al. (2011)
Molecular profile - Not Reported - - Mines MA , et al. (2010)
Molecular profile Protein expression level evidence No Change Immunohistochemistry 2.5 - 6 months Dahlhaus R and El-Husseini A (2009)
Molecular profile Protein expression level evidence Decreased Immunohistochemistry 2.5 - 6 months Dahlhaus R and El-Husseini A (2009)
Molecular profile - Not Reported - - Eadie BD , et al. (2009)
Molecular profile - Not Reported - - Schtt J , et al. (2009)
Molecular profile Transcriptome diversity No Change Gene expression microarray Unreported Gantois I , et al. (2005)
Molecular profile Transcriptome diversity No Change Quantitative PCR (qRT-PCR) Unreported Gantois I , et al. (2005)
Molecular profile Regulation of translation No Change Quantitative PCR (qRT-PCR) Unreported Gantois I , et al. (2005)
Molecular profile Regulation of translation No Change Semi-quantitative PCR (qRT-PCR) Unreported Gantois I , et al. (2005)
Molecular profile Protein expression: In situ protein expression No Change Immunohistochemistry: fluorescence 4 months Gantois I , et al. (2005)
Molecular profile Protein expression: In situ protein expression No Change Immunohistochemistry: fluorescence 4 months Gantois I , et al. (2005)
Molecular profile Protein expression level evidence Decreased Immunohistochemistry: fluorescence 10 weeks Gantois I , et al. (2005)
Molecular profile Gene expression Abnormal Semi-quantitative PCR (qRT-PCR) 10-11 weeks Gantois I , et al. (2005)
Molecular profile Gene expression Increased Quantitative PCR (qRT-PCR) 9-13 weeks Gantois I , et al. (2005)
Molecular profile Gene expression Decreased Differential display analysis of hippocampus 9-13 weeks Gantois I , et al. (2005)

M_FMR1_1_KO_HM_5HT2bAG+D1AG+PI3K inhibitor

Model Type: Pharmaceutical intervention
Model Genotype: Homozygous

Mutation:

Postnatal day 14 to 29 d old mice were anesthetized by an i.p. injection of 10mg/kg ketamine and 2mg/kg xylazine. A GluA1-GFP viral contruct was injected through a glass pipette, stereotaxically into the hippocampal CA1 region. For behavioral tests 10-12 injections of 6 ul high titer viral solutions were delivered along the entire hippocampus of both sides to achieve expression in one third of the CA1 pyramidal neurons. A cocktail of 5HT and Dopamine receptor agonist and antagonist was coadministered. The 5HT 2B-R agonist BW723C86 (0.05mg/kg) and 5HT 2A-R-Antagonist MDL11939 (0.01mg/kg)The D1- R agonist SKF81297 (0.05mg/kg) and D2-R antagonist Sulpiride (0.25mg/kg) were administered by four i.p. injections spaced by 4-6 h. The administration started 4-10 h before the viral injection and 16-20 h before behavioral tests. The compounds were dissolved in saline and saline was given to vehicle controls.

Allele Type: Knockout
Strain of Origin: 129P2/OlaHsd
Genetic Background: C57BL/6

Es cell line: -
Model Source: JAX
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Circadian sleep/wake cycle - Not Reported - - Lim CS , et al. (2014)
Motor phenotype - Not Reported - - Lim CS , et al. (2014)
Neuroanatomy / Ultrastructure / Cytoarchitecture - Not Reported - - Lim CS , et al. (2014)
Neurophysiology - Not Reported - - Lim CS , et al. (2014)
Repetitive behavior - Not Reported - - Lim CS , et al. (2014)
Seizure - Not Reported - - Lim CS , et al. (2014)
Sensory - Not Reported - - Lim CS , et al. (2014)
Social behavior - Not Reported - - Lim CS , et al. (2014)
Communications - Not Reported - - Lim CS , et al. (2014)
Developmental profile - Not Reported - - Lim CS , et al. (2014)
Emotion - Not Reported - - Lim CS , et al. (2014)
Homeostasis - Not Reported - - Lim CS , et al. (2014)
Immune response - Not Reported - - Lim CS , et al. (2014)
Learning & memory Reward reinforced choice behavior Decreased Y-maze test: appetitively motivated P29 Lim CS , et al. (2014)
Learning & memory Cued or contextual fear conditioning Decreased Fear conditioning test: trace P29 Lim CS , et al. (2014)
Maternal behavior - Not Reported - - Lim CS , et al. (2014)
Molecular profile - Not Reported - - Lim CS , et al. (2014)

M_FMR1_1_KO_HM_5HT2bAG-CA1

Model Type: RESCUE-Pharmaceutical
Model Genotype: Homozygous

Mutation:

Postnatal day 14 to 29 d old mice were anesthetized by an i.p. injection of 10mg/kg ketamine and 2mg/kg xylazine. A GluA1-GFP viral contruct was injected through a glass pipette, stereotaxically into the hippocampal CA1 region. For behavioral tests 10-12 injections of 6 ul high titer viral solutions were delivered along the entire hippocampus of both sides to achieve expression in one third of the CA1 pyramidal neurons. The 5HT 2B-R agonist BW723C86 (5mg/kg) and 5HT 2A-R-Antagonist MDL11939 (1mg/kg) were administered by four i.p. injections spaced by 4-6 h. The administration started 4-10 h before the viral injection and 16-20 h before behavioral tests. The compounds were dissolved in saline and saline was given to vehicle controls.

Allele Type: Knockout
Strain of Origin: 129P2/OlaHsd
Genetic Background: C57BL/6

Es cell line: -
Model Source: JAX
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Circadian sleep/wake cycle - Not Reported - - Lim CS , et al. (2014)
Motor phenotype - Not Reported - - Lim CS , et al. (2014)
Neuroanatomy / Ultrastructure / Cytoarchitecture - Not Reported - - Lim CS , et al. (2014)
Neurophysiology Rectification of ion channels Ameliorated Whole-cell patch clamp: evoked synaptic responses P14, P29 Lim CS , et al. (2014)
Repetitive behavior - Not Reported - - Lim CS , et al. (2014)
Seizure - Not Reported - - Lim CS , et al. (2014)
Sensory - Not Reported - - Lim CS , et al. (2014)
Social behavior - Not Reported - - Lim CS , et al. (2014)
Communications - Not Reported - - Lim CS , et al. (2014)
Developmental profile - Not Reported - - Lim CS , et al. (2014)
Emotion Anxiety Side Effect Elevated plus maze test P29 Lim CS , et al. (2014)
Emotion Anxiety Side Effect Light-dark exploration test: Light-dark exploration test P29 Lim CS , et al. (2014)
Homeostasis - Not Reported - - Lim CS , et al. (2014)
Immune response - Not Reported - - Lim CS , et al. (2014)
Learning & memory Reward reinforced choice behavior Ameliorated Y-maze test: appetitively motivated P29 Lim CS , et al. (2014)
Learning & memory Cued or contextual fear conditioning Ameliorated Fear conditioning test: trace P29 Lim CS , et al. (2014)
Maternal behavior - Not Reported - - Lim CS , et al. (2014)
Molecular profile Protein modification process Ameliorated Western blot P14, P29 Lim CS , et al. (2014)
Molecular profile Protein modification process Ameliorated Western blot P14, P29 Lim CS , et al. (2014)

M_FMR1_1_KO_HM_5HT2bAG-L2-3

Model Type: RESCUE-Pharmaceutical
Model Genotype: Homozygous

Mutation:

Postnatal day 14 to 29 d old mice were anesthetized by an i.p. injection of 10mg/kg ketamine and 2mg/kg xylazine. A GluA1-GFP viral contruct was injected through a glass pipette, stereotaxically into the barrel cortex. s to achieve expression in one third of the CA1 pyramidal neurons. The 5HT 2B-R agonist BW723C86 (5mg/kg) and 5HT 2A-R-Antagonist MDL11939 (1mg/kg) were administered by four i.p. injections spaced by 4-6 h. The administration started 4-10 h before the viral injection. The compounds were dissolved in saline and saline was given to vehicle controls.

Allele Type: Knockout
Strain of Origin: 129P2/OlaHsd
Genetic Background: C57BL/6

Es cell line: -
Model Source: JAX
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Circadian sleep/wake cycle - Not Reported - - Lim CS , et al. (2014)
Motor phenotype - Not Reported - - Lim CS , et al. (2014)
Neuroanatomy / Ultrastructure / Cytoarchitecture - Not Reported - - Lim CS , et al. (2014)
Neurophysiology Rectification of ion channels Ameliorated Whole-cell patch clamp: evoked synaptic responses P14, P29 Lim CS , et al. (2014)
Repetitive behavior - Not Reported - - Lim CS , et al. (2014)
Seizure - Not Reported - - Lim CS , et al. (2014)
Sensory - Not Reported - - Lim CS , et al. (2014)
Social behavior - Not Reported - - Lim CS , et al. (2014)
Communications - Not Reported - - Lim CS , et al. (2014)
Developmental profile - Not Reported - - Lim CS , et al. (2014)
Emotion - Not Reported - - Lim CS , et al. (2014)
Homeostasis - Not Reported - - Lim CS , et al. (2014)
Immune response - Not Reported - - Lim CS , et al. (2014)
Learning & memory - Not Reported - - Lim CS , et al. (2014)
Maternal behavior - Not Reported - - Lim CS , et al. (2014)
Molecular profile - Not Reported - - Lim CS , et al. (2014)

M_FMR1_1_KO_HM_5HT2bAG_D1AG

Model Type: RESCUE-Pharmaceutical
Model Genotype: Homozygous

Mutation:

Postnatal day 14 to 29 d old mice were anesthetized by an i.p. injection of 10mg/kg ketamine and 2mg/kg xylazine. A GluA1-GFP viral contruct was injected through a glass pipette, stereotaxically into the hippocampal CA1 region. For behavioral tests 10-12 injections of 6 ul high titer viral solutions were delivered along the entire hippocampus of both sides to achieve expression in one third of the CA1 pyramidal neurons. A cocktail of 5HT and Dopamine receptor agonist and antagonist was coadministered. The 5HT 2B-R agonist BW723C86 (0.05mg/kg) and 5HT 2A-R-Antagonist MDL11939 (0.01mg/kg)The D1- R agonist SKF81297 (0.05mg/kg) and D2-R antagonist Sulpiride (0.25mg/kg) were administered by four i.p. injections spaced by 4-6 h. The administration started 4-10 h before the viral injection and 16-20 h before behavioral tests. The compounds were dissolved in saline and saline was given to vehicle controls.

Allele Type: Knockout
Strain of Origin: 129P2/OlaHsd
Genetic Background: C57BL/6

Es cell line: -
Model Source: JAX
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Circadian sleep/wake cycle - Not Reported - - Lim CS , et al. (2014)
Motor phenotype - Not Reported - - Lim CS , et al. (2014)
Neuroanatomy / Ultrastructure / Cytoarchitecture - Not Reported - - Lim CS , et al. (2014)
Neurophysiology Rectification of ion channels Ameliorated Whole-cell patch clamp Unreported Lim CS , et al. (2014)
Repetitive behavior - Not Reported - - Lim CS , et al. (2014)
Seizure - Not Reported - - Lim CS , et al. (2014)
Sensory - Not Reported - - Lim CS , et al. (2014)
Social behavior - Not Reported - - Lim CS , et al. (2014)
Communications - Not Reported - - Lim CS , et al. (2014)
Developmental profile - Not Reported - - Lim CS , et al. (2014)
Emotion Anxiety No Adverse Effect Elevated plus maze test P29 Lim CS , et al. (2014)
Emotion Anxiety No Adverse Effect Light-dark exploration test: Light-dark exploration test P29 Lim CS , et al. (2014)
Homeostasis - Not Reported - - Lim CS , et al. (2014)
Immune response - Not Reported - - Lim CS , et al. (2014)
Learning & memory Reward reinforced choice behavior Restored Y-maze test: appetitively motivated P29 Lim CS , et al. (2014)
Learning & memory Cued or contextual fear conditioning Restored Fear conditioning test: trace P29 Lim CS , et al. (2014)
Maternal behavior - Not Reported - - Lim CS , et al. (2014)
Molecular profile Signaling Ameliorated Western blot P14, P29 Lim CS , et al. (2014)
Molecular profile Protein modification process Restored Western blot P14 or 29 Lim CS , et al. (2014)

M_FMR1_1_KO_HM_APP

Model Type: RESCUE-Genetic
Model Genotype: Homozygous

Mutation:

Homologous recombination mediated deletion of exon 5 of FMR1 gene crossed with App heterozygote knockouts.

Allele Type: Knockout
Strain of Origin: Not specified
Genetic Background: C57BL/6

Es cell line: Not specified
Model Source: Not Specified
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Circadian sleep/wake cycle - Not Reported - - Westmark CJ , et al. (2011)
Motor phenotype General locomotor activity Restored Open field test - Westmark CJ , et al. (2011)
Neuroanatomy / Ultrastructure / Cytoarchitecture - Not Reported - - Westmark CJ , et al. (2011)
Neurophysiology Synaptic plasticity Restored Field potential recordings 3 months Westmark CJ , et al. (2011)
Neurophysiology Presynaptic function: paired-pulse facilitation No Adverse Effect Paired-pulse ratio Unreported Westmark CJ , et al. (2011)
Repetitive behavior Repetitive digging Restored Marble-burying test 8-10 weeks Westmark CJ , et al. (2011)
Seizure Seizures Ameliorated Audiogenic Seizure test P21 Westmark CJ , et al. (2011)
Sensory - Not Reported - - Westmark CJ , et al. (2011)
Social behavior - Not Reported - - Westmark CJ , et al. (2011)
Communications - Not Reported - - Westmark CJ , et al. (2011)
Developmental profile - Not Reported - - Westmark CJ , et al. (2011)
Emotion - Not Reported - - Westmark CJ , et al. (2011)
Homeostasis - Not Reported - - Westmark CJ , et al. (2011)
Immune response - Not Reported - - Westmark CJ , et al. (2011)
Learning & memory - Not Reported - - Westmark CJ , et al. (2011)
Maternal behavior - Not Reported - - Westmark CJ , et al. (2011)
Molecular profile Protein expression level evidence Restored Western blot 1 month Westmark CJ , et al. (2011)

M_FMR1_1_KO_HM_CTEP_A

Model Type: RESCUE-Pharmaceutical
Model Genotype: Homozygous

Mutation:

Homologous recombination mediated targeting against Exon 5 of FMR1 followed by acute treatment of CTEP of 2 mg/kg per os (s.c.) 24 hr prior.

Allele Type: Knockout
Strain of Origin: Not Specified
Genetic Background: C57BL/6

Es cell line: Not Specified
Model Source: Not Specified
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Circadian sleep/wake cycle - Not Reported - - Michalon A , et al. (2012)
Motor phenotype - Not Reported - - Michalon A , et al. (2012)
Neuroanatomy / Ultrastructure / Cytoarchitecture - Not Reported - - Michalon A , et al. (2012)
Neurophysiology Synaptic plasticity: LTD Restored Field potential recordings P25-P30 Michalon A , et al. (2012)
Repetitive behavior - Not Reported - - Michalon A , et al. (2012)
Seizure Seizures Restored Acoustic startle reflex test: white noise stimulus P18-P22 Michalon A , et al. (2012)
Seizure Seizures Ameliorated Acoustic startle reflex test: white noise stimulus 1-2 months Michalon A , et al. (2012)
Sensory - Not Reported - - Michalon A , et al. (2012)
Social behavior - Not Reported - - Michalon A , et al. (2012)
Communications - Not Reported - - Michalon A , et al. (2012)
Developmental profile - Not Reported - - Michalon A , et al. (2012)
Emotion - Not Reported - - Michalon A , et al. (2012)
Homeostasis - Not Reported - - Michalon A , et al. (2012)
Immune response - Not Reported - - Michalon A , et al. (2012)
Learning & memory - Not Reported - - Michalon A , et al. (2012)
Maternal behavior - Not Reported - - Michalon A , et al. (2012)
Molecular profile - Not Reported - - Michalon A , et al. (2012)

M_FMR1_1_KO_HM_CTEP_C

Model Type: RESCUE-Pharmaceutical
Model Genotype: Homozygous

Mutation:

Homologous recombination mediated targeting against Exon 5 of FMR1 followed by chronic treatment of CTEP.

Allele Type: Knockout
Strain of Origin: Not Specified
Genetic Background: C57BL/6

Es cell line: Not Specified
Model Source: Not Specified
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Circadian sleep/wake cycle - Not Reported - - Michalon A , et al. (2012)
Motor phenotype Motor coordination and balance No Adverse Effect Accelerating rotarod test Unreported Michalon A , et al. (2012)
Motor phenotype Grip strength Refractory Grip strength test 9 weeks Michalon A , et al. (2012)
Motor phenotype General locomotor activity Restored Open field test 2-5 months Michalon A , et al. (2012)
Neuroanatomy / Ultrastructure / Cytoarchitecture Dendritic architecture: spine density Restored Golgi-Cox staining P58-P63 Michalon A , et al. (2012)
Neurophysiology Synaptic plasticity Restored Field potential recordings P58-P65 Michalon A , et al. (2012)
Repetitive behavior - Not Reported - - Michalon A , et al. (2012)
Seizure - Not Reported - - Michalon A , et al. (2012)
Sensory Startle response: acoustic stimulus Restored Acoustic startle reflex test: white noise stimulus P58-P63 Michalon A , et al. (2012)
Social behavior - Not Reported - - Michalon A , et al. (2012)
Communications - Not Reported - - Michalon A , et al. (2012)
Developmental profile Tissue weight Ameliorated General observations 5-17 weeks Michalon A , et al. (2012)
Developmental profile Size/growth Side Effect General observations Unreported Michalon A , et al. (2012)
Developmental profile Developmental trajectory Restored Irwin battery of neurological tests 9 weeks Michalon A , et al. (2012)
Emotion - Not Reported - - Michalon A , et al. (2012)
Homeostasis - Not Reported - - Michalon A , et al. (2012)
Immune response - Not Reported - - Michalon A , et al. (2012)
Learning & memory Cued or contextual fear conditioning: Memory of cue Restored Passive avoidance test P58-P63 Michalon A , et al. (2012)
Maternal behavior - Not Reported - - Michalon A , et al. (2012)
Molecular profile Signaling Restored Western blot P58-P63 Michalon A , et al. (2012)

M_FMR1_1_KO_HM_CX

Model Type: RESCUE-Pharmaceutical
Model Genotype: Homozygous

Mutation:

FMR1 homozygous null mice were treated daily by intraperitoneal injections for 1 week before testing began with either DMSO alone or 5 mg/kg of CX-4945 dissolved in DMSO, and diluted 1:10 into cyclodextrin. CX-4945 is an inhibitor of the kinase that activates Brd4, casein kinase 2 (CK2).

Allele Type: Knockout
Strain of Origin: -
Genetic Background: C57BL/6J

Es cell line: -
Model Source: -
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Circadian sleep/wake cycle - Not Reported - - Korb E , et al. (2017)
Motor phenotype General locomotor activity: Ambulatory activity Ameliorated Open field test 4-8 weeks Korb E , et al. (2017)
Neuroanatomy / Ultrastructure / Cytoarchitecture - Not Reported - - Korb E , et al. (2017)
Neurophysiology - Not Reported - - Korb E , et al. (2017)
Repetitive behavior Repetitive digging Refractory Marble-burying test 4-8 weeks Korb E , et al. (2017)
Seizure - Not Reported - - Korb E , et al. (2017)
Sensory - Not Reported - - Korb E , et al. (2017)
Social behavior Social approach Refractory Three-chamber social approach test 4-8 weeks Korb E , et al. (2017)
Communications - Not Reported - - Korb E , et al. (2017)
Developmental profile - Not Reported - - Korb E , et al. (2017)
Emotion Anxiety Refractory Open field test 5 weeks Korb E , et al. (2017)
Homeostasis - Not Reported - - Korb E , et al. (2017)
Immune response - Not Reported - - Korb E , et al. (2017)
Learning & memory - Not Reported - - Korb E , et al. (2017)
Maternal behavior - Not Reported - - Korb E , et al. (2017)
Molecular profile Gene expression Refractory Quantitative PCR (qRT-PCR) 4-8 weeks Korb E , et al. (2017)

M_FMR1_1_KO_HM_D1agonist-CA1

Model Type: RESCUE-Pharmaceutical
Model Genotype: Homozygous

Mutation:

Postnatal day 14 to 29 d old mice were anesthetized by an i.p. injection of 10mg/kg ketamine and 2mg/kg xylazine. A GluA1-GFP viral contruct was injected through a glass pipette, stereotaxically into the hippocampal CA1 region. For behavioral tests 10-12 injections of 6 ul high titer viral solutions were delivered along the entire hippocampus of both sides to achieve expression in one third of the CA1 pyramidal neurons. The D1- R agonist SKF81297 (5mg/kg) and D2-R antagonist Sulpiride (25mg/kg) were administered by four i.p. injections spaced by 4-6 h. The administration started 4-10 h before the viral injection and 16-20 h before behavioral tests. The compounds were dissolved in saline and saline was given to vehicle controls.

Allele Type: Knockout
Strain of Origin: 129P2/OlaHsd
Genetic Background: C57BL/6

Es cell line: -
Model Source: JAX
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Circadian sleep/wake cycle - Not Reported - - Lim CS , et al. (2014)
Motor phenotype - Not Reported - - Lim CS , et al. (2014)
Neuroanatomy / Ultrastructure / Cytoarchitecture - Not Reported - - Lim CS , et al. (2014)
Neurophysiology Rectification of ion channels Ameliorated Whole-cell patch clamp: evoked synaptic responses P14, P29 Lim CS , et al. (2014)
Repetitive behavior - Not Reported - - Lim CS , et al. (2014)
Seizure - Not Reported - - Lim CS , et al. (2014)
Sensory - Not Reported - - Lim CS , et al. (2014)
Social behavior - Not Reported - - Lim CS , et al. (2014)
Communications - Not Reported - - Lim CS , et al. (2014)
Developmental profile - Not Reported - - Lim CS , et al. (2014)
Emotion - Not Reported - - Lim CS , et al. (2014)
Homeostasis - Not Reported - - Lim CS , et al. (2014)
Immune response - Not Reported - - Lim CS , et al. (2014)
Learning & memory Reward reinforced choice behavior Ameliorated Y-maze test: appetitively motivated P29 Lim CS , et al. (2014)
Learning & memory Cued or contextual fear conditioning Ameliorated Fear conditioning test: trace P29 Lim CS , et al. (2014)
Maternal behavior - Not Reported - - Lim CS , et al. (2014)
Molecular profile Protein modification process Ameliorated Western blot P14, P29 Lim CS , et al. (2014)
Molecular profile Protein modification process Ameliorated Western blot P14, P29 Lim CS , et al. (2014)

M_FMR1_1_KO_HM_D1agonist-L2-3

Model Type: RESCUE-Pharmaceutical
Model Genotype: Homozygous

Mutation:

Postnatal day 14 to 29 d old mice were anesthetized by an i.p. injection of 10mg/kg ketamine and 2mg/kg xylazine. A GluA1-GFP viral contruct was injected through a glass pipette, stereotaxically into the barrel cortex. T The D1- R agonist SKF81297 (5mg/kg) and D2-R antagonist Sulpiride (25mg/kg) were administered by four i.p. injections spaced by 4-6 h. To determine the role of the PI3K/PKB signaling pathway a PI3K inhibitor LY294002 was administered at a dose of 5mg/kg. The administration started 4-10 h before the viral injection. The compounds were dissolved in saline and saline was given to vehicle controls.

Allele Type: Knockout
Strain of Origin: 129P2/OlaHsd
Genetic Background: C57BL/6

Es cell line: -
Model Source: -
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Circadian sleep/wake cycle - Not Reported - - Lim CS , et al. (2014)
Motor phenotype - Not Reported - - Lim CS , et al. (2014)
Neuroanatomy / Ultrastructure / Cytoarchitecture - Not Reported - - Lim CS , et al. (2014)
Neurophysiology Rectification of ion channels Ameliorated Whole-cell patch clamp: evoked synaptic responses P14, P29 Lim CS , et al. (2014)
Repetitive behavior - Not Reported - - Lim CS , et al. (2014)
Seizure - Not Reported - - Lim CS , et al. (2014)
Sensory - Not Reported - - Lim CS , et al. (2014)
Social behavior - Not Reported - - Lim CS , et al. (2014)
Communications - Not Reported - - Lim CS , et al. (2014)
Developmental profile - Not Reported - - Lim CS , et al. (2014)
Emotion - Not Reported - - Lim CS , et al. (2014)
Homeostasis - Not Reported - - Lim CS , et al. (2014)
Immune response - Not Reported - - Lim CS , et al. (2014)
Learning & memory - Not Reported - - Lim CS , et al. (2014)
Maternal behavior - Not Reported - - Lim CS , et al. (2014)
Molecular profile - Not Reported - - Lim CS , et al. (2014)

M_FMR1_1_KO_HM_GluA1CT-5HT2bAG+D1AG

Model Type: Pharmaceutical intervention
Model Genotype: Homozygous

Mutation:

Postnatal day 14 to 29 d old mice were anesthetized by an i.p. injection of 10mg/kg ketamine and 2mg/kg xylazine. A GluA1ct-GFP viral contruct was injected through a glass pipette, stereotaxically into the hippocampal CA1 region. The GluA!ct is a GFP taged cytiplasmic domain of GluA1 receptor subunit that acts as a dominant negative construct selectively blocking synaptic trafficking of endogenous or viral GluA1 contianing AMPA-rs.

Allele Type: Knockout
Strain of Origin: 129P2/OlaHsd
Genetic Background: C57BL/6

Es cell line: -
Model Source: -
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Circadian sleep/wake cycle - Not Reported - - Lim CS , et al. (2014)
Motor phenotype - Not Reported - - Lim CS , et al. (2014)
Neuroanatomy / Ultrastructure / Cytoarchitecture - Not Reported - - Lim CS , et al. (2014)
Neurophysiology - Not Reported - - Lim CS , et al. (2014)
Repetitive behavior - Not Reported - - Lim CS , et al. (2014)
Seizure - Not Reported - - Lim CS , et al. (2014)
Sensory - Not Reported - - Lim CS , et al. (2014)
Social behavior - Not Reported - - Lim CS , et al. (2014)
Communications - Not Reported - - Lim CS , et al. (2014)
Developmental profile - Not Reported - - Lim CS , et al. (2014)
Emotion - Not Reported - - Lim CS , et al. (2014)
Homeostasis - Not Reported - - Lim CS , et al. (2014)
Immune response - Not Reported - - Lim CS , et al. (2014)
Learning & memory Reward reinforced choice behavior Decreased Y-maze test: appetitively motivated P29 Lim CS , et al. (2014)
Learning & memory Cued or contextual fear conditioning Decreased Fear conditioning test: trace P29 Lim CS , et al. (2014)
Maternal behavior - Not Reported - - Lim CS , et al. (2014)
Molecular profile - Not Reported - - Lim CS , et al. (2014)

M_FMR1_1_KO_HM_JQ1-1

Model Type: RESCUE-Pharmaceutical
Model Genotype: Homozygous

Mutation:

FMR1 homozygous null mice were treated daily by intraperitoneal injections for 1 week before testing began with either DMSO alone or JQ1 at 5 mg/kg, dissolved in DMSO, and diluted 1:10 into cyclodextrin.

Allele Type: Knockout
Strain of Origin: -
Genetic Background: C57BL/6J

Es cell line: -
Model Source: -
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Circadian sleep/wake cycle - Not Reported - - Korb E , et al. (2017)
Motor phenotype General locomotor activity: Ambulatory activity Ameliorated Open field test 4-8 weeks Korb E , et al. (2017)
Neuroanatomy / Ultrastructure / Cytoarchitecture - Not Reported - - Korb E , et al. (2017)
Neurophysiology - Not Reported - - Korb E , et al. (2017)
Repetitive behavior Repetitive digging Ameliorated Marble-burying test 4-8 weeks Korb E , et al. (2017)
Seizure - Not Reported - - Korb E , et al. (2017)
Sensory - Not Reported - - Korb E , et al. (2017)
Social behavior Social approach Refractory Three-chamber social approach test 4-8 weeks Korb E , et al. (2017)
Communications - Not Reported - - Korb E , et al. (2017)
Developmental profile - Not Reported - - Korb E , et al. (2017)
Emotion Anxiety Refractory Open field test 5 weeks Korb E , et al. (2017)
Homeostasis - Not Reported - - Korb E , et al. (2017)
Immune response - Not Reported - - Korb E , et al. (2017)
Learning & memory - Not Reported - - Korb E , et al. (2017)
Maternal behavior - Not Reported - - Korb E , et al. (2017)
Molecular profile Gene expression Ameliorated Quantitative PCR (qRT-PCR) 4-8 weeks Korb E , et al. (2017)

M_FMR1_1_KO_HM_JQ1-2

Model Type: RESCUE-Pharmaceutical
Model Genotype: Homozygous

Mutation:

FMR1 homozygous null mice were treated daily by intraperitoneal injections for 1 week before testing began with either DMSO alone or JQ1 at 25 mg/kg dissolved in DMSO, and diluted 1:10 into cyclodextrin.

Allele Type: Knockout
Strain of Origin: -
Genetic Background: C57BL/6J

Es cell line: -
Model Source: -
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Circadian sleep/wake cycle - Not Reported - - Korb E , et al. (2017)
Motor phenotype General locomotor activity: Ambulatory activity Restored Open field test 4-8 weeks Korb E , et al. (2017)
Neuroanatomy / Ultrastructure / Cytoarchitecture - Not Reported - - Korb E , et al. (2017)
Neurophysiology - Not Reported - - Korb E , et al. (2017)
Repetitive behavior Repetitive digging Restored Marble-burying test 4-8 weeks Korb E , et al. (2017)
Seizure - Not Reported - - Korb E , et al. (2017)
Sensory - Not Reported - - Korb E , et al. (2017)
Social behavior Social approach Restored Three-chamber social approach test 4-8 weeks Korb E , et al. (2017)
Communications - Not Reported - - Korb E , et al. (2017)
Developmental profile Integumentary system development No Adverse Effect Immunohistochemistry Not specified Korb E , et al. (2017)
Developmental profile Digestive system development No Adverse Effect Immunohistochemistry Not specified Korb E , et al. (2017)
Emotion Exploratory activity No Adverse Effect Three-chamber social approach test 4-8 weeks Korb E , et al. (2017)
Emotion Anxiety No Adverse Effect Open field test 4-8 weeks Korb E , et al. (2017)
Homeostasis - Not Reported - - Korb E , et al. (2017)
Immune response Adaptive immune response: T cells No Adverse Effect Flow cytometric analysis Not specified Korb E , et al. (2017)
Learning & memory Object recognition memory Ameliorated Novel object recognition test 4-8 weeks Korb E , et al. (2017)
Maternal behavior - Not Reported - - Korb E , et al. (2017)
Molecular profile - Not Reported - - Korb E , et al. (2017)

M_FMR1_1_KO_HM_JQ1-3

Model Type: RESCUE-Pharmaceutical
Model Genotype: Homozygous

Mutation:

FMR1 homozygous null mice were treated daily by intraperitoneal injections for 1 week before testing began with either DMSO alone (controls) or JQ1 at 50 mg/kg dissolved in DMSO, and diluted 1:10 into cyclodextrin.

Allele Type: Knockout
Strain of Origin: -
Genetic Background: C57BL/6J

Es cell line: -
Model Source: -
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Circadian sleep/wake cycle - Not Reported - - Korb E , et al. (2017)
Motor phenotype General locomotor activity: Ambulatory activity No Adverse Effect Three-chamber social approach test 4.3 weeks Korb E , et al. (2017)
Neuroanatomy / Ultrastructure / Cytoarchitecture - Not Reported - - Korb E , et al. (2017)
Neurophysiology - Not Reported - - Korb E , et al. (2017)
Repetitive behavior Repetitive digging Restored Marble-burying test 4.3 weeks Korb E , et al. (2017)
Seizure - Not Reported - - Korb E , et al. (2017)
Sensory - Not Reported - - Korb E , et al. (2017)
Social behavior Social approach Restored Three-chamber social approach test 4.3 weeks Korb E , et al. (2017)
Communications - Not Reported - - Korb E , et al. (2017)
Developmental profile Integumentary system development Side effect Immunohistochemistry Not specified Korb E , et al. (2017)
Developmental profile Digestive system development No Adverse Effect Immunohistochemistry Not specified Korb E , et al. (2017)
Emotion Exploratory activity No Adverse Effect Three-chamber social approach test 4.3 weeks Korb E , et al. (2017)
Homeostasis - Not Reported - - Korb E , et al. (2017)
Immune response Adaptive immune response: T cells Side effect Flow cytometric analysis Not specified Korb E , et al. (2017)
Learning & memory - Not Reported - - Korb E , et al. (2017)
Maternal behavior - Not Reported - - Korb E , et al. (2017)
Molecular profile Gene expression Ameliorated Quantitative PCR (qRT-PCR) Not specified Korb E , et al. (2017)

M_FMR1_1_KO_HM_JQ1_CX

Model Type: RESCUE-Pharmaceutical
Model Genotype: Homozygous

Mutation:

FMR1 homozygous null mice were treated daily by intraperitoneal injections for 1 week before testing began with either DMSO alone or 5 mg/kg each of JQ1 and CX-4945 combined, dissolved in DMSO, and diluted 1:10 into cyclodextrin.

Allele Type: Knockout
Strain of Origin: -
Genetic Background: C57BL/6J

Es cell line: -
Model Source: -
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Circadian sleep/wake cycle - Not Reported - - Korb E , et al. (2017)
Motor phenotype General locomotor activity: Ambulatory activity Refractory Open field test 4-8 weeks Korb E , et al. (2017)
Motor phenotype General locomotor activity: Ambulatory activity Refractory Three-chamber social approach test 4-8 weeks Korb E , et al. (2017)
Neuroanatomy / Ultrastructure / Cytoarchitecture Dendritic architecture: spine density Restored Immunohistochemistry 4-8 weeks Korb E , et al. (2017)
Neurophysiology - Not Reported - - Korb E , et al. (2017)
Repetitive behavior Repetitive digging Restored Marble-burying test 4-8 weeks Korb E , et al. (2017)
Repetitive behavior Repetitive digging Restored Marble-burying test 4-8 weeks Korb E , et al. (2017)
Seizure - Not Reported - - Korb E , et al. (2017)
Sensory - Not Reported - - Korb E , et al. (2017)
Social behavior Social approach Restored Three-chamber social approach test 4-8 weeks Korb E , et al. (2017)
Social behavior Social approach Restored Three-chamber social approach test 4-8 weeks Korb E , et al. (2017)
Communications - Not Reported - - Korb E , et al. (2017)
Developmental profile - Not Reported - - Korb E , et al. (2017)
Emotion Anxiety Restored Open field test 5 weeks Korb E , et al. (2017)
Homeostasis - Not Reported - - Korb E , et al. (2017)
Immune response - Not Reported - - Korb E , et al. (2017)
Learning & memory - Not Reported - - Korb E , et al. (2017)
Maternal behavior - Not Reported - - Korb E , et al. (2017)
Molecular profile Gene expression Ameliorated Quantitative PCR (qRT-PCR) 4-8 weeks Korb E , et al. (2017)
Molecular profile Gene expression Restored Quantitative PCR (qRT-PCR) 4-8 weeks Korb E , et al. (2017)

M_FMR1_1_KO_HM_Lithium-acute

Model Type: RESCUE-Pharmaceutical
Model Genotype: Homozygous

Mutation:

FMR1 KO mice were given an intraperitoneal (ip) injection of 4 mmole/kg lithium chloride (Sigma), for the acute treatment with lithium a dose that is effective in behavioral tests and increases serinephosphorylation of GSK3 in mouse brain.

Allele Type: Knockout
Strain of Origin: -
Genetic Background: C57BL/6

Es cell line: -
Model Source: -
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Circadian sleep/wake cycle - Not Reported - - Yuskaitis CJ , et al. (2009)
Motor phenotype - Not Reported - - Yuskaitis CJ , et al. (2009)
Neuroanatomy / Ultrastructure / Cytoarchitecture - Not Reported - - Yuskaitis CJ , et al. (2009)
Neurophysiology - Not Reported - - Yuskaitis CJ , et al. (2009)
Repetitive behavior - Not Reported - - Yuskaitis CJ , et al. (2009)
Seizure - Not Reported - - Yuskaitis CJ , et al. (2009)
Sensory - Not Reported - - Yuskaitis CJ , et al. (2009)
Social behavior - Not Reported - - Yuskaitis CJ , et al. (2009)
Communications - Not Reported - - Yuskaitis CJ , et al. (2009)
Developmental profile - Not Reported - - Yuskaitis CJ , et al. (2009)
Emotion - Not Reported - - Yuskaitis CJ , et al. (2009)
Homeostasis - Not Reported - - Yuskaitis CJ , et al. (2009)
Immune response - Not Reported - - Yuskaitis CJ , et al. (2009)
Learning & memory - Not Reported - - Yuskaitis CJ , et al. (2009)
Maternal behavior - Not Reported - - Yuskaitis CJ , et al. (2009)
Molecular profile Protein phosphorylation Sustained effect Western blot: cerebral cortex extract 3 months Yuskaitis CJ , et al. (2009)
Molecular profile Protein phosphorylation Sustained effect Western blot: hippocampal extract 3 months Yuskaitis CJ , et al. (2009)
Molecular profile Protein phosphorylation Sustained effect Western blot: striatum 3 months Yuskaitis CJ , et al. (2009)

M_FMR1_1_KO_HM_Lithium-chronic

Model Type: RESCUE-Pharmaceutical
Model Genotype: Homozygous

Mutation:

FMR1 KO mice were given water and saline ad libitum and were fed pelleted chow containing 0.2% lithium carbonate (Teklad, Madison, WI) for three weeks for the chronic treatment with lithium.

Allele Type: Knockout
Strain of Origin: -
Genetic Background: C57BL/6

Es cell line: -
Model Source: -
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Circadian sleep/wake cycle - Not Reported - - Yuskaitis CJ , et al. (2009)
Motor phenotype - Not Reported - - Yuskaitis CJ , et al. (2009)
Neuroanatomy / Ultrastructure / Cytoarchitecture - Not Reported - - Yuskaitis CJ , et al. (2009)
Neurophysiology Neurotransmitter release: neurotrophins Unexpected results ELISA: BDNF 3 months Yuskaitis CJ , et al. (2009)
Repetitive behavior - Not Reported - - Yuskaitis CJ , et al. (2009)
Seizure - Not Reported - - Yuskaitis CJ , et al. (2009)
Sensory - Not Reported - - Yuskaitis CJ , et al. (2009)
Social behavior - Not Reported - - Yuskaitis CJ , et al. (2009)
Communications - Not Reported - - Yuskaitis CJ , et al. (2009)
Developmental profile - Not Reported - - Yuskaitis CJ , et al. (2009)
Emotion - Not Reported - - Yuskaitis CJ , et al. (2009)
Homeostasis - Not Reported - - Yuskaitis CJ , et al. (2009)
Immune response - Not Reported - - Yuskaitis CJ , et al. (2009)
Learning & memory Cued or contextual fear conditioning: Passive avoidance Restored Passive avoidance test 3 months Yuskaitis CJ , et al. (2009)
Maternal behavior - Not Reported - - Yuskaitis CJ , et al. (2009)
Molecular profile Protein phosphorylation Restored Western blot: striatum 3 months Yuskaitis CJ , et al. (2009)
Molecular profile Protein phosphorylation Restored Western blot: hippocampal extract 3 months Yuskaitis CJ , et al. (2009)
Molecular profile Protein phosphorylation Restored Western blot: cerebral cortex extract 3 months Yuskaitis CJ , et al. (2009)
Molecular profile Protein phosphorylation Restored Western blot: cerebellum 3 months Yuskaitis CJ , et al. (2009)

M_FMR1_1_KO_HM_Minocycline

Model Type: RESCUE-Pharmaceutical
Model Genotype: Homozygous

Mutation:

Homologous recombination against Exon 5 which was interrupted by the positive selection marker gene neomycin (neo) with 30 mg/kg minocycline mother's drinking water for 28 days.

Allele Type: Knockout
Strain of Origin: Not Specified
Genetic Background: Not Specified

Es cell line: Not Specified
Model Source: Not Specified
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Circadian sleep/wake cycle - Not Reported - - Rotschafer SE , et al. (2012)
Motor phenotype - Not Reported - - Rotschafer SE , et al. (2012)
Neuroanatomy / Ultrastructure / Cytoarchitecture - Not Reported - - Rotschafer SE , et al. (2012)
Neurophysiology - Not Reported - - Rotschafer SE , et al. (2012)
Repetitive behavior - Not Reported - - Rotschafer SE , et al. (2012)
Seizure - Not Reported - - Rotschafer SE , et al. (2012)
Sensory - Not Reported - - Rotschafer SE , et al. (2012)
Social behavior - Not Reported - - Rotschafer SE , et al. (2012)
Communications Ultrasonic vocalization Restored Monitoring ultrasonic vocalizations: reciprocal social interaction test: male-female - Rotschafer SE , et al. (2012)
Communications Ultrasonic vocalization No Adverse Effect Monitoring ultrasonic vocalizations Unreported Rotschafer SE , et al. (2012)
Developmental profile - Not Reported - - Rotschafer SE , et al. (2012)
Emotion - Not Reported - - Rotschafer SE , et al. (2012)
Homeostasis - Not Reported - - Rotschafer SE , et al. (2012)
Immune response - Not Reported - - Rotschafer SE , et al. (2012)
Learning & memory - Not Reported - - Rotschafer SE , et al. (2012)
Maternal behavior - Not Reported - - Rotschafer SE , et al. (2012)
Molecular profile - Not Reported - - Rotschafer SE , et al. (2012)

M_FMR1_1_KO_HM_Minocycline-1

Model Type: RESCUE-Pharmaceutical
Model Genotype: Homozygous

Mutation:

Homologous recombination against Exon 5 which was interrupted by the positive selection marker gene neomycin (neo) with 30 mg/kg minocycline mother's drinking water for 28 days.

Allele Type: Knockout
Strain of Origin: Not Specified
Genetic Background: Not Specified

Es cell line: Not Specified
Model Source: Not Specified
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Circadian sleep/wake cycle - Not Reported - - Rotschafer SE , et al. (2012)
Motor phenotype - Not Reported - - Rotschafer SE , et al. (2012)
Neuroanatomy / Ultrastructure / Cytoarchitecture - Not Reported - - Rotschafer SE , et al. (2012)
Neurophysiology - Not Reported - - Rotschafer SE , et al. (2012)
Repetitive behavior - Not Reported - - Rotschafer SE , et al. (2012)
Seizure - Not Reported - - Rotschafer SE , et al. (2012)
Sensory - Not Reported - - Rotschafer SE , et al. (2012)
Social behavior - Not Reported - - Rotschafer SE , et al. (2012)
Communications Ultrasonic vocalization Restored Monitoring ultrasonic vocalizations: reciprocal social interaction test: male-female - Rotschafer SE , et al. (2012)
Communications Ultrasonic vocalization No Adverse Effect Monitoring ultrasonic vocalizations Unreported Rotschafer SE , et al. (2012)
Developmental profile - Not Reported - - Rotschafer SE , et al. (2012)
Emotion - Not Reported - - Rotschafer SE , et al. (2012)
Homeostasis - Not Reported - - Rotschafer SE , et al. (2012)
Immune response - Not Reported - - Rotschafer SE , et al. (2012)
Learning & memory - Not Reported - - Rotschafer SE , et al. (2012)
Maternal behavior - Not Reported - - Rotschafer SE , et al. (2012)
Molecular profile - Not Reported - - Rotschafer SE , et al. (2012)

M_FMR1_1_KO_HM_Minocycline-2

Model Type: RESCUE-Pharmaceutical
Model Genotype: Hemizygous

Mutation:

Female FMR1 heterozygous mice and their pups were treated with minocycline through drinking water at 30mg/kg/day. After the offspring were weaned, minocycline administration continued in the drinking water of the offspring until they reached 2 months of age. FMR1 hemizygous knockout mice where a neomycin resistance gene is inserted into exon 5 and there is no detectable transcript or protein produced by this allele. .

Allele Type: Knockout
Strain of Origin: 129P2/OlaHsd
Genetic Background: C57BL/6J

Es cell line: E14
Model Source: -
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Circadian sleep/wake cycle - Not Reported - - Yau SY , et al. (2018)
Motor phenotype - Not Reported - - Yau SY , et al. (2018)
Neuroanatomy / Ultrastructure / Cytoarchitecture Neuroreceptor levels: glutamate receptors: NMDA receptors Restored Western blot: Fractionation: synaptoneurosome fraction Adult Yau SY , et al. (2018)
Neuroanatomy / Ultrastructure / Cytoarchitecture Dendritic architecture: dendritic tree complexity Restored Sholl analysis Adult Yau SY , et al. (2018)
Neuroanatomy / Ultrastructure / Cytoarchitecture Dendritic architecture: dendritic length Restored Sholl analysis Adult Yau SY , et al. (2018)
Neurophysiology Synaptic neuroreceptor ratio (NMDAR/AMPAR) dependent transmission Restored Whole-cell voltage clamp Adult Yau SY , et al. (2018)
Neurophysiology Miniature post synaptic current amplitude: excitatory Restored Whole-cell voltage clamp Adult Yau SY , et al. (2018)
Neurophysiology Miniature post synaptic current amplitude: excitatory No Adverse Effect Whole-cell voltage clamp Adult Yau SY , et al. (2018)
Neurophysiology EPSP-spike relationship Restored Whole-cell voltage clamp Adult Yau SY , et al. (2018)
Neurophysiology EPSP-spike relationship Side effect Whole-cell voltage clamp Adult Yau SY , et al. (2018)
Repetitive behavior - Not Reported - - Yau SY , et al. (2018)
Seizure - Not Reported - - Yau SY , et al. (2018)
Sensory - Not Reported - - Yau SY , et al. (2018)
Social behavior - Not Reported - - Yau SY , et al. (2018)
Communications - Not Reported - - Yau SY , et al. (2018)
Developmental profile - Not Reported - - Yau SY , et al. (2018)
Emotion Exploratory activity: Habituation No Adverse Effect Object-place recognition test Adult Yau SY , et al. (2018)
Emotion Depression No Adverse Effect Forced swim test Adult Yau SY , et al. (2018)
Emotion Depression No Adverse Effect Tail suspension test Adult Yau SY , et al. (2018)
Emotion Anxiety Side effect Open field test Adult Yau SY , et al. (2018)
Homeostasis - Not Reported - - Yau SY , et al. (2018)
Immune response - Not Reported - - Yau SY , et al. (2018)
Learning & memory Spatial reference memory Restored Object-place recognition test Adult Yau SY , et al. (2018)
Learning & memory Procedural learning No Adverse Effect Novel object recognition test: modified Adult Yau SY , et al. (2018)
Learning & memory Object recognition memory Restored Novel object recognition test Adult Yau SY , et al. (2018)
Maternal behavior - Not Reported - - Yau SY , et al. (2018)
Molecular profile Protein phosphorylation Restored Western blot Adult Yau SY , et al. (2018)
Molecular profile Protein localization: synapse Restored Western blot: Fractionation: synaptoneurosome fraction Adult Yau SY , et al. (2018)

M_FMR1_1_KO_HM_MPEP

Model Type: RESCUE-Pharmaceutical
Model Genotype: Homozygous

Mutation:

FMR1 KO mice were given an intraperitoneal (ip) injection of 30mg/kg MPEP (2-methyl-6-phenylethynyl-pyridine), for the acute treatment with lithium a dose that is effective in behavioral tests and increases serinephosphorylation of GSK3 in mouse brain.

Allele Type: Knockout
Strain of Origin: -
Genetic Background: C57BL/6

Es cell line: -
Model Source: -
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Circadian sleep/wake cycle - Not Reported - - Yuskaitis CJ , et al. (2009)
Motor phenotype - Not Reported - - Yuskaitis CJ , et al. (2009)
Neuroanatomy / Ultrastructure / Cytoarchitecture - Not Reported - - Yuskaitis CJ , et al. (2009)
Neurophysiology - Not Reported - - Yuskaitis CJ , et al. (2009)
Repetitive behavior - Not Reported - - Yuskaitis CJ , et al. (2009)
Seizure - Not Reported - - Yuskaitis CJ , et al. (2009)
Sensory - Not Reported - - Yuskaitis CJ , et al. (2009)
Social behavior - Not Reported - - Yuskaitis CJ , et al. (2009)
Communications - Not Reported - - Yuskaitis CJ , et al. (2009)
Developmental profile - Not Reported - - Yuskaitis CJ , et al. (2009)
Emotion - Not Reported - - Yuskaitis CJ , et al. (2009)
Homeostasis - Not Reported - - Yuskaitis CJ , et al. (2009)
Immune response - Not Reported - - Yuskaitis CJ , et al. (2009)
Learning & memory - Not Reported - - Yuskaitis CJ , et al. (2009)
Maternal behavior - Not Reported - - Yuskaitis CJ , et al. (2009)
Molecular profile Protein phosphorylation Restored Western blot: striatum 3 months Yuskaitis CJ , et al. (2009)
Molecular profile Protein phosphorylation Restored Western blot: hippocampal extract 3 months Yuskaitis CJ , et al. (2009)
Molecular profile Protein phosphorylation Restored Western blot: cerebral cortex extract 3 months Yuskaitis CJ , et al. (2009)
Molecular profile Protein phosphorylation Restored Western blot: cerebellum 3 months Yuskaitis CJ , et al. (2009)

M_FMR1_2_KO_HM

Model Type: Genetic
Model Genotype: Homozygous

Mutation:

FMR1 gene was generated by construction a targeting vector using homologous recombination against Exon 5 which was interrupted by the positive selection marker gene neomycin (neo).

Allele Type: Knockout
Strain of Origin: 129P2/OlaHsd
Genetic Background: Not Specified

Es cell line: E14
Model Source: Not Specified
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Circadian sleep/wake cycle - Not Reported - - no authors (1994)
Circadian sleep/wake cycle - Not Reported - - Orefice LL , et al. (2016)
Circadian sleep/wake cycle - Not Reported - - Costa L , et al. (2012)
Circadian sleep/wake cycle - Not Reported - - Olmos-Serrano JL , et al. (2011)
Circadian sleep/wake cycle - Not Reported - - Shang Y , et al. (2009)
Motor phenotype Spontaneous Movement Increased Home cage behavior: infrared beams Unreported no authors (1994)
Motor phenotype - Not Reported - - Orefice LL , et al. (2016)
Motor phenotype - Not Reported - - Costa L , et al. (2012)
Motor phenotype General locomotor activity No Change Open field test 3 months Olmos-Serrano JL , et al. (2011)
Motor phenotype General locomotor activity Increased Open field test 3 months Olmos-Serrano JL , et al. (2011)
Motor phenotype - Not Reported - - Shang Y , et al. (2009)
Neuroanatomy / Ultrastructure / Cytoarchitecture Brain size No Change Macroscopic analysis 2 months no authors (1994)
Neuroanatomy / Ultrastructure / Cytoarchitecture - Not Reported - - Orefice LL , et al. (2016)
Neuroanatomy / Ultrastructure / Cytoarchitecture - Not Reported - - Costa L , et al. (2012)
Neuroanatomy / Ultrastructure / Cytoarchitecture - Not Reported - - Olmos-Serrano JL , et al. (2011)
Neuroanatomy / Ultrastructure / Cytoarchitecture - Not Reported - - Shang Y , et al. (2009)
Neurophysiology - Not Reported - - no authors (1994)
Neurophysiology - Not Reported - - Orefice LL , et al. (2016)
Neurophysiology Miniature post synaptic currents: excitatory Increased Whole-cell patch clamp P0-P1 Costa L , et al. (2012)
Neurophysiology Miniature post synaptic currents: excitatory Decreased Whole-cell patch clamp P0-P1 Costa L , et al. (2012)
Neurophysiology - Not Reported - - Olmos-Serrano JL , et al. (2011)
Neurophysiology Synaptic transmission Decreased Field potential recordings Unreported Shang Y , et al. (2009)
Repetitive behavior - Not Reported - - no authors (1994)
Repetitive behavior - Not Reported - - Orefice LL , et al. (2016)
Repetitive behavior - Not Reported - - Costa L , et al. (2012)
Repetitive behavior - Not Reported - - Olmos-Serrano JL , et al. (2011)
Repetitive behavior - Not Reported - - Shang Y , et al. (2009)
Seizure - Not Reported - - no authors (1994)
Seizure - Not Reported - - Orefice LL , et al. (2016)
Seizure - Not Reported - - Costa L , et al. (2012)
Seizure - Not Reported - - Olmos-Serrano JL , et al. (2011)
Seizure - Not Reported - - Shang Y , et al. (2009)
Sensory - Not Reported - - no authors (1994)
Sensory Touch Increased Response to air puff 6-8 weeks Orefice LL , et al. (2016)
Sensory Tactile discrimination and memory Decreased Textured novel object recognition test (T-NORT) 6-8 weeks Orefice LL , et al. (2016)
Sensory Startle response: acoustic stimulus No Change Acoustic startle reflex test 6-8 weeks Orefice LL , et al. (2016)
Sensory Sensorimotor gating: tactile cue Decreased Prepulse inhibition: air puff stimulus 6-8 weeks Orefice LL , et al. (2016)
Sensory Sensorimotor gating No Change Prepulse inhibition 6-8 weeks Orefice LL , et al. (2016)
Sensory - Not Reported - - Costa L , et al. (2012)
Sensory Startle response: acoustic stimulus Decreased Prepulse inhibition 3 months Olmos-Serrano JL , et al. (2011)
Sensory Startle response: acoustic stimulus Decreased Prepulse inhibition 3 months Olmos-Serrano JL , et al. (2011)
Sensory Sensorimotor gating No Change Prepulse inhibition 3 months Olmos-Serrano JL , et al. (2011)
Sensory Sensorimotor gating Increased Prepulse inhibition 3 months Olmos-Serrano JL , et al. (2011)
Sensory - Not Reported - - Shang Y , et al. (2009)
Social behavior Social interaction No Change Reciprocal social interaction test Unreported no authors (1994)
Social behavior Social interaction Increased Light-dark exploration test: Light-dark exploration test Unreported no authors (1994)
Social behavior - Not Reported - - Orefice LL , et al. (2016)
Social behavior - Not Reported - - Costa L , et al. (2012)
Social behavior - Not Reported - - Olmos-Serrano JL , et al. (2011)
Social behavior - Not Reported - - Shang Y , et al. (2009)
Communications - Not Reported - - no authors (1994)
Communications - Not Reported - - Orefice LL , et al. (2016)
Communications - Not Reported - - Costa L , et al. (2012)
Communications - Not Reported - - Olmos-Serrano JL , et al. (2011)
Communications - Not Reported - - Shang Y , et al. (2009)
Developmental profile Reproductive system development No Change General observations Unreported no authors (1994)
Developmental profile Reproductive system development Decreased General observations 5-7 weeks, 2.5 months; 3.5 months; 5.5 months no authors (1994)
Developmental profile Reproductive system development Decreased Histology: testis 5-7 weeks, 2.5 months; 3.5 months; 5.5 months no authors (1994)
Developmental profile - Not Reported - - Orefice LL , et al. (2016)
Developmental profile - Not Reported - - Costa L , et al. (2012)
Developmental profile - Not Reported - - Olmos-Serrano JL , et al. (2011)
Developmental profile - Not Reported - - Shang Y , et al. (2009)
Emotion - Not Reported - - no authors (1994)
Emotion Exploratory activity No Change Textured novel object recognition test (T-NORT) 6-8 weeks Orefice LL , et al. (2016)
Emotion - Not Reported - - Costa L , et al. (2012)
Emotion Anxiety No Change Open field test 3 months Olmos-Serrano JL , et al. (2011)
Emotion - Not Reported - - Shang Y , et al. (2009)
Homeostasis - Not Reported - - no authors (1994)
Homeostasis - Not Reported - - Orefice LL , et al. (2016)
Homeostasis - Not Reported - - Costa L , et al. (2012)
Homeostasis - Not Reported - - Olmos-Serrano JL , et al. (2011)
Homeostasis - Not Reported - - Shang Y , et al. (2009)
Immune response - Not Reported - - no authors (1994)
Immune response - Not Reported - - Orefice LL , et al. (2016)
Immune response - Not Reported - - Costa L , et al. (2012)
Immune response - Not Reported - - Olmos-Serrano JL , et al. (2011)
Immune response - Not Reported - - Shang Y , et al. (2009)
Learning & memory Spatial learning No Change Morris water maze test: visible platform trial Unreported no authors (1994)
Learning & memory Spatial learning Decreased Morris water maze test: hidden platform trial Unreported no authors (1994)
Learning & memory Cued or contextual fear conditioning: Memory of cue No Change Passive avoidance test Unreported no authors (1994)
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)
Learning & memory - Not Reported - - Costa L , et al. (2012)
Learning & memory Cued or contextual fear conditioning: Memory of cue Decreased Fear conditioning test: contextual and acoustic cue-dependent 3 months Olmos-Serrano JL , et al. (2011)
Learning & memory Cued or contextual fear conditioning: Memory of cue Decreased Fear conditioning test: acoustic cue-dependent 3 months Olmos-Serrano JL , et al. (2011)
Learning & memory Cued or contextual fear conditioning: Memory of context No Change Fear conditioning test: contextual 3 months Olmos-Serrano JL , et al. (2011)
Learning & memory - Not Reported - - Shang Y , et al. (2009)
Maternal behavior - Not Reported - - no authors (1994)
Maternal behavior - Not Reported - - Orefice LL , et al. (2016)
Maternal behavior - Not Reported - - Costa L , et al. (2012)
Maternal behavior - Not Reported - - Olmos-Serrano JL , et al. (2011)
Maternal behavior - Not Reported - - Shang Y , et al. (2009)
Molecular profile - Not Reported - - no authors (1994)
Molecular profile - Not Reported - - Orefice LL , et al. (2016)
Molecular profile - Not Reported - - Costa L , et al. (2012)
Molecular profile - Not Reported - - Olmos-Serrano JL , et al. (2011)
Molecular profile - Not Reported - - Shang Y , et al. (2009)

M_FMR1_2_KO_HM_CTEP-A

Model Type: RESCUE-Pharmaceutical
Model Genotype: Homozygous

Mutation:

Homologous recombination mediated targeting against Exon 5 of Fmr1 followed by acute treatment of CTEP of 2 mg/kg per os (s.c.) 24 hr prior.

Allele Type: Knockout
Strain of Origin: Not Specified
Genetic Background: C57BL/6

Es cell line: Not Specified
Model Source: Not Specified
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Circadian sleep/wake cycle - Not Reported - - Michalon A , et al. (2012)
Motor phenotype - Not Reported - - Michalon A , et al. (2012)
Neuroanatomy / Ultrastructure / Cytoarchitecture - Not Reported - - Michalon A , et al. (2012)
Neurophysiology Synaptic plasticity: LTD Restored Field potential recordings P25-P30 Michalon A , et al. (2012)
Repetitive behavior - Not Reported - - Michalon A , et al. (2012)
Seizure Seizures Restored Acoustic startle reflex test: white noise stimulus P18-P22 Michalon A , et al. (2012)
Seizure Seizures Ameliorated Acoustic startle reflex test: white noise stimulus 1-2 months Michalon A , et al. (2012)
Sensory - Not Reported - - Michalon A , et al. (2012)
Social behavior - Not Reported - - Michalon A , et al. (2012)
Communications - Not Reported - - Michalon A , et al. (2012)
Developmental profile - Not Reported - - Michalon A , et al. (2012)
Emotion - Not Reported - - Michalon A , et al. (2012)
Homeostasis - Not Reported - - Michalon A , et al. (2012)
Immune response - Not Reported - - Michalon A , et al. (2012)
Learning & memory - Not Reported - - Michalon A , et al. (2012)
Maternal behavior - Not Reported - - Michalon A , et al. (2012)
Molecular profile - Not Reported - - Michalon A , et al. (2012)

M_FMR1_2_KO_HM_CTEP-C

Model Type: RESCUE-Pharmaceutical
Model Genotype: Homozygous

Mutation:

Homologous recombination mediated targeting against Exon 5 of Fmr1 followed by chronic treatment of CTEP.

Allele Type: Knockout
Strain of Origin: Not Specified
Genetic Background: C57BL/6

Es cell line: Not Specified
Model Source: Not Specified
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Circadian sleep/wake cycle - Not Reported - - Michalon A , et al. (2012)
Motor phenotype Motor coordination and balance No Adverse Effect Accelerating rotarod test Unreported Michalon A , et al. (2012)
Motor phenotype Grip strength Refractory Grip strength test 9 weeks Michalon A , et al. (2012)
Motor phenotype General locomotor activity Restored Open field test 2-5 months Michalon A , et al. (2012)
Neuroanatomy / Ultrastructure / Cytoarchitecture Dendritic architecture: spine density Restored Golgi-Cox staining P58-P63 Michalon A , et al. (2012)
Neurophysiology Synaptic plasticity Restored Field potential recordings P58-P65 Michalon A , et al. (2012)
Repetitive behavior - Not Reported - - Michalon A , et al. (2012)
Seizure - Not Reported - - Michalon A , et al. (2012)
Sensory Startle response: acoustic stimulus Restored Acoustic startle reflex test: white noise stimulus P58-P63 Michalon A , et al. (2012)
Social behavior - Not Reported - - Michalon A , et al. (2012)
Communications - Not Reported - - Michalon A , et al. (2012)
Developmental profile Tissue weight Ameliorated General observations 5-17 weeks Michalon A , et al. (2012)
Developmental profile Size/growth Side Effect General observations Unreported Michalon A , et al. (2012)
Developmental profile Developmental trajectory Restored Irwin battery of neurological tests 9 weeks Michalon A , et al. (2012)
Emotion - Not Reported - - Michalon A , et al. (2012)
Homeostasis - Not Reported - - Michalon A , et al. (2012)
Immune response - Not Reported - - Michalon A , et al. (2012)
Learning & memory Cued or contextual fear conditioning: Memory of cue Restored Passive avoidance test P58-P63 Michalon A , et al. (2012)
Maternal behavior - Not Reported - - Michalon A , et al. (2012)
Molecular profile Signaling Restored Western blot P58-P63 Michalon A , et al. (2012)

M_FMR1_3_KO_HM

Model Type: Genetic
Model Genotype: Homozygous

Mutation:

A germline null mutation was created by crossing FMR1 mice, which has the first coding exon floxed, with mice that express Cre-recombinase in the germline (Tg(CAG-cre)13Miya). Gene inactivation was confirmed by a lack of protein expression in the brain and testes as determined by immunoblot analysis.

Allele Type: Knockout
Strain of Origin: C57BL/6J
Genetic Background: 129P2/OlaHsd * C57BL/6

Es cell line: E14
Model Source: Not Specified
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Circadian sleep/wake cycle - Not Reported - - Tyzio R , et al. (2014)
Circadian sleep/wake cycle - Not Reported - - Mientjes EJ , et al. (2005)
Motor phenotype - Not Reported - - Tyzio R , et al. (2014)
Motor phenotype - Not Reported - - Mientjes EJ , et al. (2005)
Neuroanatomy / Ultrastructure / Cytoarchitecture Neurotransporter expression Decreased Immunocytochemistry: fluorescence microscopy P15 Tyzio R , et al. (2014)
Neuroanatomy / Ultrastructure / Cytoarchitecture - Not Reported - - Mientjes EJ , et al. (2005)
Neurophysiology Spontaneous post synaptic events Increased Whole-cell patch clamp P0, P15 Tyzio R , et al. (2014)
Neurophysiology Population spikes Increased Field potential recordings P15 Tyzio R , et al. (2014)
Neurophysiology Driving force of ion channel or receptor Increased Cell-attached patch clamp E20-E21, P15, P30 Tyzio R , et al. (2014)
Neurophysiology Action potential firing Increased Cell-attached patch clamp P0 Tyzio R , et al. (2014)
Neurophysiology - Not Reported - - Mientjes EJ , et al. (2005)
Repetitive behavior - Not Reported - - Tyzio R , et al. (2014)
Repetitive behavior - Not Reported - - Mientjes EJ , et al. (2005)
Seizure - Not Reported - - Tyzio R , et al. (2014)
Seizure - Not Reported - - Mientjes EJ , et al. (2005)
Sensory - Not Reported - - Tyzio R , et al. (2014)
Sensory - Not Reported - - Mientjes EJ , et al. (2005)
Social behavior - Not Reported - - Tyzio R , et al. (2014)
Social behavior - Not Reported - - Mientjes EJ , et al. (2005)
Communications Ultrasonic vocalization Decreased Monitoring ultrasonic vocalizations: maternal separation P8 Tyzio R , et al. (2014)
Communications - Not Reported - - Mientjes EJ , et al. (2005)
Developmental profile - Not Reported - - Tyzio R , et al. (2014)
Developmental profile Reproductive system development Decreased Measurement of tissue weight Unreported Mientjes EJ , et al. (2005)
Developmental profile General characteristics No Change General observations Unreported Mientjes EJ , et al. (2005)
Developmental profile General characteristics No Change General observations Unreported Mientjes EJ , et al. (2005)
Emotion - Not Reported - - Tyzio R , et al. (2014)
Emotion - Not Reported - - Mientjes EJ , et al. (2005)
Homeostasis - Not Reported - - Tyzio R , et al. (2014)
Homeostasis - Not Reported - - Mientjes EJ , et al. (2005)
Immune response - Not Reported - - Tyzio R , et al. (2014)
Immune response - Not Reported - - Mientjes EJ , et al. (2005)
Learning & memory - Not Reported - - Tyzio R , et al. (2014)
Learning & memory - Not Reported - - Mientjes EJ , et al. (2005)
Maternal behavior - Not Reported - - Tyzio R , et al. (2014)
Maternal behavior - Not Reported - - Mientjes EJ , et al. (2005)
Molecular profile - Not Reported - - Tyzio R , et al. (2014)
Molecular profile Targeted expression Decreased Immunocytochemistry: brain or testis by using anti-FmrPantibody Unreported Mientjes EJ , et al. (2005)
Molecular profile Targeted expression Decreased Western blot: brain lysate Unreported Mientjes EJ , et al. (2005)
Molecular profile Targeted expression Decreased Quantitative PCR (qRT-PCR): brain Unreported Mientjes EJ , et al. (2005)

M_FMR1_3_KO_HM-Bumetanide

Model Type: RESCUE-Pharmaceutical
Model Genotype: Homozygous

Mutation:

A germline null mutation was created by crossing FMR1 mice, which has the first coding exon floxed, with mice that express Cre-recombinase in the germline (Tg(CAG-cre)13Miya). Dams were treated with Bumetanide (2-2.5 mg/kg) in drinking water, one day before delivery.

Allele Type: Knockout
Strain of Origin: 129P2/OlaHsd
Genetic Background: 129P2/OlaHsd * C57BL/6

Es cell line: -
Model Source: JAX
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Circadian sleep/wake cycle - Not Reported - - Tyzio R , et al. (2014)
Motor phenotype - Not Reported - - Tyzio R , et al. (2014)
Neuroanatomy / Ultrastructure / Cytoarchitecture - Not Reported - - Tyzio R , et al. (2014)
Neurophysiology Spontaneous post synaptic events Ameliorated Whole-cell patch clamp P15 Tyzio R , et al. (2014)
Neurophysiology Population spikes Ameliorated Field potential recordings P15 Tyzio R , et al. (2014)
Neurophysiology Driving force of ion channel or receptor Restored Cell-attached patch clamp P15 Tyzio R , et al. (2014)
Repetitive behavior - Not Reported - - Tyzio R , et al. (2014)
Seizure - Not Reported - - Tyzio R , et al. (2014)
Sensory - Not Reported - - Tyzio R , et al. (2014)
Social behavior - Not Reported - - Tyzio R , et al. (2014)
Communications Ultrasonic vocalization Restored Monitoring ultrasonic vocalizations: maternal separation P8 Tyzio R , et al. (2014)
Developmental profile - Not Reported - - Tyzio R , et al. (2014)
Emotion - Not Reported - - Tyzio R , et al. (2014)
Homeostasis - Not Reported - - Tyzio R , et al. (2014)
Immune response - Not Reported - - Tyzio R , et al. (2014)
Learning & memory - Not Reported - - Tyzio R , et al. (2014)
Maternal behavior - Not Reported - - Tyzio R , et al. (2014)
Molecular profile - Not Reported - - Tyzio R , et al. (2014)

M_FMR1_3_KO_HM_Bumetanide

Model Type: RESCUE-Pharmaceutical
Model Genotype: Homozygous

Mutation:

A germline null mutation was created by crossing Fmr1 mice, which has the first coding exon floxed, with mice that express Cre-recombinase in the germline (Tg(CAG-cre)13Miya). Dams were treated with Bumetanide (2-2.5 mg/kg) in drinking water, one day before delivery.

Allele Type: Knockout
Strain of Origin: 129P2/OlaHsd
Genetic Background: 129P2/OlaHsd * C57BL/6

Es cell line: -
Model Source: JAX
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Circadian sleep/wake cycle - Not Reported - - Tyzio R , et al. (2014)
Motor phenotype - Not Reported - - Tyzio R , et al. (2014)
Neuroanatomy / Ultrastructure / Cytoarchitecture - Not Reported - - Tyzio R , et al. (2014)
Neurophysiology Spontaneous post synaptic events Ameliorated Whole-cell patch clamp P15 Tyzio R , et al. (2014)
Neurophysiology Population spikes Ameliorated Field potential recordings P15 Tyzio R , et al. (2014)
Neurophysiology Driving force of ion channel or receptor Restored Cell-attached patch clamp P15 Tyzio R , et al. (2014)
Repetitive behavior - Not Reported - - Tyzio R , et al. (2014)
Seizure - Not Reported - - Tyzio R , et al. (2014)
Sensory - Not Reported - - Tyzio R , et al. (2014)
Social behavior - Not Reported - - Tyzio R , et al. (2014)
Communications Ultrasonic vocalization Restored Monitoring ultrasonic vocalizations: maternal separation P8 Tyzio R , et al. (2014)
Developmental profile - Not Reported - - Tyzio R , et al. (2014)
Emotion - Not Reported - - Tyzio R , et al. (2014)
Homeostasis - Not Reported - - Tyzio R , et al. (2014)
Immune response - Not Reported - - Tyzio R , et al. (2014)
Learning & memory - Not Reported - - Tyzio R , et al. (2014)
Maternal behavior - Not Reported - - Tyzio R , et al. (2014)
Molecular profile - Not Reported - - Tyzio R , et al. (2014)

M_FMR1_4_CKO_HM_PurkinjeN

Model Type: Genetic
Model Genotype: Homozygous

Mutation:

Conditional deletion of exon 1 of FMR1 using L7-cre, in Purkinje cells of the cerebellum

Allele Type: Conditional loss-of-function
Strain of Origin: C57BL/6J
Genetic Background: Not specified

Es cell line: E14
Model Source: Not Specified
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Circadian sleep/wake cycle - Not Reported - - Mientjes EJ , et al. (2005)
Motor phenotype - Not Reported - - Mientjes EJ , et al. (2005)
Neuroanatomy / Ultrastructure / Cytoarchitecture - Not Reported - - Mientjes EJ , et al. (2005)
Neurophysiology - Not Reported - - Mientjes EJ , et al. (2005)
Repetitive behavior - Not Reported - - Mientjes EJ , et al. (2005)
Seizure - Not Reported - - Mientjes EJ , et al. (2005)
Sensory - Not Reported - - Mientjes EJ , et al. (2005)
Social behavior - Not Reported - - Mientjes EJ , et al. (2005)
Communications - Not Reported - - Mientjes EJ , et al. (2005)
Developmental profile Reproductive system development Decreased General observations Unreported Mientjes EJ , et al. (2005)
Developmental profile General characteristics No Change General observations Unreported Mientjes EJ , et al. (2005)
Emotion - Not Reported - - Mientjes EJ , et al. (2005)
Homeostasis - Not Reported - - Mientjes EJ , et al. (2005)
Immune response - Not Reported - - Mientjes EJ , et al. (2005)
Learning & memory - Not Reported - - Mientjes EJ , et al. (2005)
Maternal behavior - Not Reported - - Mientjes EJ , et al. (2005)
Molecular profile Targeted expression Decreased Immunohistochemistry: fluorescence Unreported Mientjes EJ , et al. (2005)

M_FMR1_5_KI_HM

Model Type: Genetic
Model Genotype: Homozygous

Mutation:

Knock in of transgene containing ~120 CGG.CCG repeats in the FMR1 gene with a Cre recombinase under the control of the MMTV promoter.

Allele Type: Humanized LOF mutation
Strain of Origin: Not Specified
Genetic Background: C57BL/6

Es cell line: Not Specified
Model Source: Not Specified
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Circadian sleep/wake cycle - Not Reported - - Qin M , et al. (2011)
Motor phenotype Motor coordination and balance No Change Accelerating rotarod test Unreported Qin M , et al. (2011)
Motor phenotype General locomotor activity Increased Open field test 7-9 weeks Qin M , et al. (2011)
Neuroanatomy / Ultrastructure / Cytoarchitecture Dendritic architecture: spine density Increased Golgi-Cox staining: quantification of spines on golgi-cox stained secondary apical and primary basal dendrites of layer III pyramidal cells in medial prefrontal cortex, CA3 pyramidal cells in dorsal hippocampus, pyramidal-like and stellate cells in basal lateral amygdala 17 weeks Qin M , et al. (2011)
Neuroanatomy / Ultrastructure / Cytoarchitecture Dendritic architecture: dendritic tree complexity Decreased Golgi-Cox staining: neurons in CA3 pyramidal cells, amygdala and 17 weeks Qin M , et al. (2011)
Neurophysiology - Not Reported - - Qin M , et al. (2011)
Repetitive behavior - Not Reported - - Qin M , et al. (2011)
Seizure - Not Reported - - Qin M , et al. (2011)
Sensory - Not Reported - - Qin M , et al. (2011)
Social behavior Social memory No Change Three-chamber social approach test 8-10 weeks Qin M , et al. (2011)
Social behavior Social approach No Change Three-chamber social approach test 8-10 weeks Qin M , et al. (2011)
Communications - Not Reported - - Qin M , et al. (2011)
Developmental profile Size/growth No Change General observations Unreported Qin M , et al. (2011)
Developmental profile Reproductive system development Decreased Measurement of tissue weight - Qin M , et al. (2011)
Developmental profile General characteristics No Change General observations Unreported Qin M , et al. (2011)
Emotion Anxiety Decreased Elevated zero maze test 10-13 weeks Qin M , et al. (2011)
Emotion Anxiety Decreased Open field test 10-13 weeks Qin M , et al. (2011)
Homeostasis - Not Reported - - Qin M , et al. (2011)
Immune response - Not Reported - - Qin M , et al. (2011)
Learning & memory Cued or contextual fear conditioning: Passive avoidance Decreased Passive avoidance test 13-16 weeks Qin M , et al. (2011)
Maternal behavior - Not Reported - - Qin M , et al. (2011)
Molecular profile Regulation of translation Increased Autoradiographic analysis 17 weeks Qin M , et al. (2011)
Molecular profile Protein expression level evidence Decreased Western blot 3 months Qin M , et al. (2011)
Molecular profile Gene expression Increased Quantitative PCR (qRT-PCR) 3 months Qin M , et al. (2011)

M_FMR1_6_KI_HM_I304N

Model Type: Genetic
Model Genotype: Homozygous

Mutation:

Homologous recombination mediated introduction of I304N mutation to FMR1 locus.

Allele Type: Humanized LOF mutation
Strain of Origin: Not Specified
Genetic Background: FVB x C57BL/6J

Es cell line: Not Specified
Model Source: Not Specified
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Circadian sleep/wake cycle - Not Reported - - Zang JB , et al. (2009)
Motor phenotype Hyperactivity No Change Open field test Unreported Zang JB , et al. (2009)
Motor phenotype General locomotor activity Increased Open field test Unreported Zang JB , et al. (2009)
Neuroanatomy / Ultrastructure / Cytoarchitecture - Not Reported - - Zang JB , et al. (2009)
Neurophysiology - Not Reported - - Zang JB , et al. (2009)
Repetitive behavior Repetitive digging Increased Marble-burying test Unreported Zang JB , et al. (2009)
Seizure - Not Reported - - Zang JB , et al. (2009)
Sensory Sensorimotor gating No Change Prepulse inhibition Unreported Zang JB , et al. (2009)
Sensory Pain or nociception Decreased Hot plate test Unreported Zang JB , et al. (2009)
Social behavior - Not Reported - - Zang JB , et al. (2009)
Communications - Not Reported - - Zang JB , et al. (2009)
Developmental profile Size/growth No Change General observations Unreported Zang JB , et al. (2009)
Developmental profile Reproductive system development Increased General observations Unreported Zang JB , et al. (2009)
Developmental profile General characteristics No Change General observations Unreported Zang JB , et al. (2009)
Emotion Anxiety Decreased Open field test Unreported Zang JB , et al. (2009)
Emotion Anxiety Decreased Light-dark exploration test: Light-dark exploration test Unreported Zang JB , et al. (2009)
Homeostasis - Not Reported - - Zang JB , et al. (2009)
Immune response - Not Reported - - Zang JB , et al. (2009)
Learning & memory - Not Reported - - Zang JB , et al. (2009)
Maternal behavior - Not Reported - - Zang JB , et al. (2009)
Molecular profile - Not Reported - - Zang JB , et al. (2009)

M_FMR1_7_KO_HM

Model Type: Genetic
Model Genotype: Homozygous

Mutation:

Homologous recombination against Exon 5 which was interrupted by the positive selection marker gene neomycin, maintained in a mixed background with FVB and 129P2 corrected for eyesight by the pde6b allele.

Allele Type: Knockout
Strain of Origin: Not Specified
Genetic Background: FVB.129P2.pde6b+

Es cell line: Not Specified
Model Source: Not Specified
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Circadian sleep/wake cycle - Not Reported - - -
Circadian sleep/wake cycle - Not Reported - - Antoine MW , et al. (2019)
Circadian sleep/wake cycle - Not Reported - - Dansie LE , et al. (2013)
Circadian sleep/wake cycle - Not Reported - - Dolan BM , et al. (2013)
Circadian sleep/wake cycle - Not Reported - - Rogers TD , et al. (2013)
Motor phenotype - Not Reported - - -
Motor phenotype - Not Reported - - Antoine MW , et al. (2019)
Motor phenotype General locomotor activity Increased Elevated plus maze test 4, 8 weeks Dansie LE , et al. (2013)
Motor phenotype General locomotor activity Increased Open field test 4, 8 weeks Dansie LE , et al. (2013)
Motor phenotype General locomotor activity Increased Open field test 10-17 weeks Dolan BM , et al. (2013)
Motor phenotype - Not Reported - - Rogers TD , et al. (2013)
Neuroanatomy / Ultrastructure / Cytoarchitecture - Not Reported - - -
Neuroanatomy / Ultrastructure / Cytoarchitecture - Not Reported - - Antoine MW , et al. (2019)
Neuroanatomy / Ultrastructure / Cytoarchitecture - Not Reported - - Dansie LE , et al. (2013)
Neuroanatomy / Ultrastructure / Cytoarchitecture Dendritic architecture: spine density No Change Golgi-Cox staining 11 weeks Dolan BM , et al. (2013)
Neuroanatomy / Ultrastructure / Cytoarchitecture Dendritic architecture: spine density Increased Golgi-Cox staining 11 weeks Dolan BM , et al. (2013)
Neuroanatomy / Ultrastructure / Cytoarchitecture - Not Reported - - Rogers TD , et al. (2013)
Neurophysiology Neuronal activation No Change Whole-cell voltage clamp P17-P23 -
Neurophysiology Synaptic transmission Increased Whole-cell voltage clamp P17-P23 Antoine MW , et al. (2019)
Neurophysiology Synaptic plasticity No Change Whole-cell current clamp P17-P23 Antoine MW , et al. (2019)
Neurophysiology Stimulus-spike relationship: inhibitory Decreased Whole-cell voltage clamp P17-P23 Antoine MW , et al. (2019)
Neurophysiology Spontaneous post synaptic event frequency: inhibitory currents No Change Whole-cell voltage clamp P17-P23 Antoine MW , et al. (2019)
Neurophysiology Spontaneous post synaptic event frequency: excitatory currents No Change Whole-cell voltage clamp P17-P23 Antoine MW , et al. (2019)
Neurophysiology Spontaneous post synaptic event amplitude: inhibitory currents No Change Whole-cell voltage clamp P17-P23 Antoine MW , et al. (2019)
Neurophysiology Spontaneous post synaptic event amplitude: excitatory currents No Change Whole-cell voltage clamp P17-P23 Antoine MW , et al. (2019)
Neurophysiology Network excitability No Change Whole-cell current clamp P17-P23 Antoine MW , et al. (2019)
Neurophysiology Network excitability Decreased Whole-cell voltage clamp P17-P23 Antoine MW , et al. (2019)
Neurophysiology Membrane potential No Change Whole-cell voltage clamp P17-P23 Antoine MW , et al. (2019)
Neurophysiology Intrinsic membrane properties No Change Whole-cell voltage clamp P17-P23 Antoine MW , et al. (2019)
Neurophysiology EPSP-spike relationship Decreased Whole-cell voltage clamp P17-P23 Antoine MW , et al. (2019)
Neurophysiology Decay kinetics of miniature post synaptic currents No Change Whole-cell voltage clamp P17-P23 Antoine MW , et al. (2019)
Neurophysiology Decay kinetics of miniature post synaptic currents No Change Whole-cell current clamp P17-P23 Antoine MW , et al. (2019)
Neurophysiology Action potential properties: amplitude, rate of depolarization and repolarization No Change Whole-cell current clamp P17-P23 Antoine MW , et al. (2019)
Neurophysiology Action potential properties: amplitude, rate of depolarization and repolarization Increased Whole-cell voltage clamp P17-P23 Antoine MW , et al. (2019)
Neurophysiology Action potential firing Decreased Whole-cell voltage clamp P42-P92 Antoine MW , et al. (2019)
Neurophysiology Action potential firing No Change Whole-cell voltage clamp 2.5 weeks - 3.14 weeks, 2 months Antoine MW , et al. (2019)
Neurophysiology Action potential firing No Change Cell-attached patch clamp P17-P23 Antoine MW , et al. (2019)
Neurophysiology - Not Reported - - Dansie LE , et al. (2013)
Neurophysiology - Not Reported - - Dolan BM , et al. (2013)
Neurophysiology Neurotransmitter release: catecholamines Decreased In vivo amperometry: fixed potential amperometry Unreported Rogers TD , et al. (2013)
Repetitive behavior - Not Reported - - -
Repetitive behavior - Not Reported - - Antoine MW , et al. (2019)
Repetitive behavior Stereotypy Increased Open field test Unreported Dansie LE , et al. (2013)
Repetitive behavior Repetitive digging Increased Marble-burying test 4, 8 weeks, 2 months Dansie LE , et al. (2013)
Repetitive behavior Stereotypy Increased Open field test 10-17 weeks Dolan BM , et al. (2013)
Repetitive behavior Circling Increased Open field test 10-17 weeks Dolan BM , et al. (2013)
Repetitive behavior - Not Reported - - Rogers TD , et al. (2013)
Seizure - Not Reported - - -
Seizure - Not Reported - - Antoine MW , et al. (2019)
Seizure - Not Reported - - Dansie LE , et al. (2013)
Seizure Seizures Increased Audiogenic Seizure test 10-17 weeks Dolan BM , et al. (2013)
Seizure - Not Reported - - Rogers TD , et al. (2013)
Sensory - Not Reported - - -
Sensory Sensory-evoked response: excitation: tactile stimulus Decreased Whole-cell voltage clamp P42-P92 Antoine MW , et al. (2019)
Sensory Sensory-evoked response: excitation: tactile stimulus Decreased Whole-cell voltage clamp 2.5 weeks - 3.14 weeks, 2 months Antoine MW , et al. (2019)
Sensory - Not Reported - - Antoine MW , et al. (2019)
Sensory - Not Reported - - Dansie LE , et al. (2013)
Sensory - Not Reported - - Dolan BM , et al. (2013)
Sensory - Not Reported - - Rogers TD , et al. (2013)
Social behavior - Not Reported - - -
Social behavior - Not Reported - - Antoine MW , et al. (2019)
Social behavior - Not Reported - - Dansie LE , et al. (2013)
Social behavior - Not Reported - - Dolan BM , et al. (2013)
Social behavior - Not Reported - - Rogers TD , et al. (2013)
Communications - Not Reported - - -
Communications - Not Reported - - Antoine MW , et al. (2019)
Communications - Not Reported - - Dansie LE , et al. (2013)
Communications - Not Reported - - Dolan BM , et al. (2013)
Communications - Not Reported - - Rogers TD , et al. (2013)
Developmental profile - Not Reported - - -
Developmental profile - Not Reported - - Antoine MW , et al. (2019)
Developmental profile - Not Reported - - Dansie LE , et al. (2013)
Developmental profile Tissue weight Increased General observations 10-17 weeks Dolan BM , et al. (2013)
Developmental profile Size/growth No Change General observations 10-17 weeks Dolan BM , et al. (2013)
Developmental profile - Not Reported - - Rogers TD , et al. (2013)
Emotion - Not Reported - - -
Emotion - Not Reported - - Antoine MW , et al. (2019)
Emotion Anxiety Increased Elevated plus maze test 4, 8 weeks Dansie LE , et al. (2013)
Emotion - Not Reported - - Dolan BM , et al. (2013)
Emotion - Not Reported - - Rogers TD , et al. (2013)
Homeostasis - Not Reported - - -
Homeostasis - Not Reported - - Antoine MW , et al. (2019)
Homeostasis - Not Reported - - Dansie LE , et al. (2013)
Homeostasis - Not Reported - - Dolan BM , et al. (2013)
Homeostasis - Not Reported - - Rogers TD , et al. (2013)
Immune response - Not Reported - - -
Immune response - Not Reported - - Antoine MW , et al. (2019)
Immune response Adaptive immune response: B cells antibody production: IgG No Change ELISA Unreported Dansie LE , et al. (2013)
Immune response - Not Reported - - Dolan BM , et al. (2013)
Immune response - Not Reported - - Rogers TD , et al. (2013)
Learning & memory - Not Reported - - -
Learning & memory - Not Reported - - Antoine MW , et al. (2019)
Learning & memory - Not Reported - - Dansie LE , et al. (2013)
Learning & memory - Not Reported - - Dolan BM , et al. (2013)
Learning & memory - Not Reported - - Rogers TD , et al. (2013)
Maternal behavior - Not Reported - - -
Maternal behavior - Not Reported - - Antoine MW , et al. (2019)
Maternal behavior - Not Reported - - Dansie LE , et al. (2013)
Maternal behavior - Not Reported - - Dolan BM , et al. (2013)
Maternal behavior - Not Reported - - Rogers TD , et al. (2013)
Molecular profile - Not Reported - - -
Molecular profile - Not Reported - - Antoine MW , et al. (2019)
Molecular profile Protein phosphorylation Increased ELISA: multi-kinase Unreported Dansie LE , et al. (2013)
Molecular profile Protein phosphorylation Decreased ELISA: multi-kinase Unreported Dansie LE , et al. (2013)
Molecular profile - Not Reported - - Dolan BM , et al. (2013)
Molecular profile - Not Reported - - Rogers TD , et al. (2013)

M_FMR1_7_KO_HM_FRAX486-H

Model Type: RESCUE-Pharmaceutical
Model Genotype: Homozygous

Mutation:

Homologous recombination against Exon 5 which was interrupted by the positive selection marker gene neomycin followed by administration of FRAX486 at 30 mg/kg for 8 hours.

Allele Type: Knockout
Strain of Origin: Not specified
Genetic Background: FVB

Es cell line: Not specified
Model Source: Not Specified
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Circadian sleep/wake cycle - Not Reported - - Dolan BM , et al. (2013)
Motor phenotype - Not Reported - - Dolan BM , et al. (2013)
Neuroanatomy / Ultrastructure / Cytoarchitecture - Not Reported - - Dolan BM , et al. (2013)
Neurophysiology - Not Reported - - Dolan BM , et al. (2013)
Repetitive behavior - Not Reported - - Dolan BM , et al. (2013)
Seizure Seizures Restored Audiogenic Seizure test 10-17 weeks Dolan BM , et al. (2013)
Sensory - Not Reported - - Dolan BM , et al. (2013)
Social behavior - Not Reported - - Dolan BM , et al. (2013)
Communications - Not Reported - - Dolan BM , et al. (2013)
Developmental profile - Not Reported - - Dolan BM , et al. (2013)
Emotion - Not Reported - - Dolan BM , et al. (2013)
Homeostasis - Not Reported - - Dolan BM , et al. (2013)
Immune response - Not Reported - - Dolan BM , et al. (2013)
Learning & memory - Not Reported - - Dolan BM , et al. (2013)
Maternal behavior - Not Reported - - Dolan BM , et al. (2013)
Molecular profile - Not Reported - - Dolan BM , et al. (2013)

M_FMR1_7_KO_HM_FRAX486-L-1

Model Type: RESCUE-Pharmaceutical
Model Genotype: Homozygous

Mutation:

Homologous recombination against Exon 5 which was interrupted by the positive selection marker gene neomycin followed by administration of FRAX486 at 10 mg/kg for 8 hours.

Allele Type: Knockout
Strain of Origin: Not specified
Genetic Background: FVB

Es cell line: Not specified
Model Source: Not Specified
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Circadian sleep/wake cycle - Not Reported - - Dolan BM , et al. (2013)
Motor phenotype - Not Reported - - Dolan BM , et al. (2013)
Neuroanatomy / Ultrastructure / Cytoarchitecture - Not Reported - - Dolan BM , et al. (2013)
Neurophysiology - Not Reported - - Dolan BM , et al. (2013)
Repetitive behavior - Not Reported - - Dolan BM , et al. (2013)
Seizure Seizures Ameliorated Audiogenic Seizure test 10-17 weeks Dolan BM , et al. (2013)
Sensory - Not Reported - - Dolan BM , et al. (2013)
Social behavior - Not Reported - - Dolan BM , et al. (2013)
Communications - Not Reported - - Dolan BM , et al. (2013)
Developmental profile - Not Reported - - Dolan BM , et al. (2013)
Emotion - Not Reported - - Dolan BM , et al. (2013)
Homeostasis - Not Reported - - Dolan BM , et al. (2013)
Immune response - Not Reported - - Dolan BM , et al. (2013)
Learning & memory - Not Reported - - Dolan BM , et al. (2013)
Maternal behavior - Not Reported - - Dolan BM , et al. (2013)
Molecular profile - Not Reported - - Dolan BM , et al. (2013)

M_FMR1_7_KO_HM_FRAX486-L-2

Model Type: RESCUE-Pharmaceutical
Model Genotype: Homozygous

Mutation:

Homologous recombination against Exon 5 which was interrupted by the positive selection marker gene neomycin followed by administration of FRAX486 at 10 mg/kg for 5 days and tested 8 hrs after final dose.

Allele Type: Knockout
Strain of Origin: Not specified
Genetic Background: FVB

Es cell line: Not specified
Model Source: Not Specified
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Circadian sleep/wake cycle - Not Reported - - Dolan BM , et al. (2013)
Motor phenotype - Not Reported - - Dolan BM , et al. (2013)
Neuroanatomy / Ultrastructure / Cytoarchitecture - Not Reported - - Dolan BM , et al. (2013)
Neurophysiology - Not Reported - - Dolan BM , et al. (2013)
Repetitive behavior - Not Reported - - Dolan BM , et al. (2013)
Seizure Seizures Ameliorated Audiogenic Seizure test 10-17 weeks Dolan BM , et al. (2013)
Sensory - Not Reported - - Dolan BM , et al. (2013)
Social behavior - Not Reported - - Dolan BM , et al. (2013)
Communications - Not Reported - - Dolan BM , et al. (2013)
Developmental profile - Not Reported - - Dolan BM , et al. (2013)
Emotion - Not Reported - - Dolan BM , et al. (2013)
Homeostasis - Not Reported - - Dolan BM , et al. (2013)
Immune response - Not Reported - - Dolan BM , et al. (2013)
Learning & memory - Not Reported - - Dolan BM , et al. (2013)
Maternal behavior - Not Reported - - Dolan BM , et al. (2013)
Molecular profile - Not Reported - - Dolan BM , et al. (2013)

M_FMR1_7_KO_HM_FRAX486-M-1

Model Type: RESCUE-Pharmaceutical
Model Genotype: Homozygous

Mutation:

Homologous recombination against Exon 5 which was interrupted by the positive selection marker gene neomycin followed by administration of FRAX486 at 20 mg/kg for 8 hours.

Allele Type: Knockout
Strain of Origin: Not specified
Genetic Background: FVB

Es cell line: Not specified
Model Source: Not Specified
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Circadian sleep/wake cycle - Not Reported - - Dolan BM , et al. (2013)
Motor phenotype - Not Reported - - Dolan BM , et al. (2013)
Neuroanatomy / Ultrastructure / Cytoarchitecture Dendritic architecture: spine density No Adverse Effect Golgi-Cox staining 11 weeks Dolan BM , et al. (2013)
Neuroanatomy / Ultrastructure / Cytoarchitecture Dendritic architecture: spine density Restored Golgi-Cox staining 11 weeks Dolan BM , et al. (2013)
Neurophysiology - Not Reported - - Dolan BM , et al. (2013)
Repetitive behavior - Not Reported - - Dolan BM , et al. (2013)
Seizure Seizures Ameliorated Audiogenic Seizure test 10-17 weeks Dolan BM , et al. (2013)
Sensory - Not Reported - - Dolan BM , et al. (2013)
Social behavior - Not Reported - - Dolan BM , et al. (2013)
Communications - Not Reported - - Dolan BM , et al. (2013)
Developmental profile - Not Reported - - Dolan BM , et al. (2013)
Emotion - Not Reported - - Dolan BM , et al. (2013)
Homeostasis - Not Reported - - Dolan BM , et al. (2013)
Immune response - Not Reported - - Dolan BM , et al. (2013)
Learning & memory - Not Reported - - Dolan BM , et al. (2013)
Maternal behavior - Not Reported - - Dolan BM , et al. (2013)
Molecular profile - Not Reported - - Dolan BM , et al. (2013)

M_FMR1_7_KO_HM_FRAX486-M-3

Model Type: RESCUE-Pharmaceutical
Model Genotype: Homozygous

Mutation:

Homologous recombination against Exon 5 which was interrupted by the positive selection marker gene neomycin followed by administration of FRAX486 at 20 mg/kg for 5 days and tested 8 hours after final dose.

Allele Type: Knockout
Strain of Origin: Not specified
Genetic Background: FVB

Es cell line: Not specified
Model Source: Not Specified
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Circadian sleep/wake cycle - Not Reported - - Dolan BM , et al. (2013)
Motor phenotype Motor coordination and balance No Adverse Effect Accelerating rotarod test 10-17 weeks Dolan BM , et al. (2013)
Motor phenotype General locomotor activity Restored Open field test 10-17 weeks Dolan BM , et al. (2013)
Neuroanatomy / Ultrastructure / Cytoarchitecture - Not Reported - - Dolan BM , et al. (2013)
Neurophysiology - Not Reported - - Dolan BM , et al. (2013)
Repetitive behavior Stereotypy Restored Open field test 10-17 weeks Dolan BM , et al. (2013)
Repetitive behavior Circling Restored Open field test 10-17 weeks Dolan BM , et al. (2013)
Seizure Seizures Restored Audiogenic Seizure test 10-17 weeks Dolan BM , et al. (2013)
Sensory - Not Reported - - Dolan BM , et al. (2013)
Social behavior - Not Reported - - Dolan BM , et al. (2013)
Communications - Not Reported - - Dolan BM , et al. (2013)
Developmental profile Tissue weight Refractory General observations 10-17 weeks Dolan BM , et al. (2013)
Developmental profile Size/growth No Adverse Effect General observations 10-17 weeks Dolan BM , et al. (2013)
Emotion - Not Reported - - Dolan BM , et al. (2013)
Homeostasis - Not Reported - - Dolan BM , et al. (2013)
Immune response - Not Reported - - Dolan BM , et al. (2013)
Learning & memory - Not Reported - - Dolan BM , et al. (2013)
Maternal behavior - Not Reported - - Dolan BM , et al. (2013)
Molecular profile - Not Reported - - Dolan BM , et al. (2013)

M_FMR1_7_KO_HM_FRAX486_H

Model Type: RESCUE-Pharmaceutical
Model Genotype: Homozygous

Mutation:

Homologous recombination against Exon 5 which was interrupted by the positive selection marker gene neomycin followed by administration of FRAX486 at 30 mg/kg for 8 hours.

Allele Type: Knockout
Strain of Origin: Not specified
Genetic Background: FVB

Es cell line: Not specified
Model Source: Not Specified
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Circadian sleep/wake cycle - Not Reported - - Dolan BM , et al. (2013)
Motor phenotype - Not Reported - - Dolan BM , et al. (2013)
Neuroanatomy / Ultrastructure / Cytoarchitecture - Not Reported - - Dolan BM , et al. (2013)
Neurophysiology - Not Reported - - Dolan BM , et al. (2013)
Repetitive behavior - Not Reported - - Dolan BM , et al. (2013)
Seizure Seizures Restored Audiogenic Seizure test 10-17 weeks Dolan BM , et al. (2013)
Sensory - Not Reported - - Dolan BM , et al. (2013)
Social behavior - Not Reported - - Dolan BM , et al. (2013)
Communications - Not Reported - - Dolan BM , et al. (2013)
Developmental profile - Not Reported - - Dolan BM , et al. (2013)
Emotion - Not Reported - - Dolan BM , et al. (2013)
Homeostasis - Not Reported - - Dolan BM , et al. (2013)
Immune response - Not Reported - - Dolan BM , et al. (2013)
Learning & memory - Not Reported - - Dolan BM , et al. (2013)
Maternal behavior - Not Reported - - Dolan BM , et al. (2013)
Molecular profile - Not Reported - - Dolan BM , et al. (2013)

M_FMR1_7_KO_HM_FRAX486_L

Model Type: RESCUE-Pharmaceutical
Model Genotype: Homozygous

Mutation:

Homologous recombination against Exon 5 which was interrupted by the positive selection marker gene neomycin followed by administration of FRAX486 at 10 mg/kg for 8 hours.

Allele Type: Knockout
Strain of Origin: Not specified
Genetic Background: FVB

Es cell line: Not specified
Model Source: Not Specified
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Circadian sleep/wake cycle - Not Reported - - Dolan BM , et al. (2013)
Motor phenotype - Not Reported - - Dolan BM , et al. (2013)
Neuroanatomy / Ultrastructure / Cytoarchitecture - Not Reported - - Dolan BM , et al. (2013)
Neurophysiology - Not Reported - - Dolan BM , et al. (2013)
Repetitive behavior - Not Reported - - Dolan BM , et al. (2013)
Seizure Seizures Ameliorated Audiogenic Seizure test 10-17 weeks Dolan BM , et al. (2013)
Sensory - Not Reported - - Dolan BM , et al. (2013)
Social behavior - Not Reported - - Dolan BM , et al. (2013)
Communications - Not Reported - - Dolan BM , et al. (2013)
Developmental profile - Not Reported - - Dolan BM , et al. (2013)
Emotion - Not Reported - - Dolan BM , et al. (2013)
Homeostasis - Not Reported - - Dolan BM , et al. (2013)
Immune response - Not Reported - - Dolan BM , et al. (2013)
Learning & memory - Not Reported - - Dolan BM , et al. (2013)
Maternal behavior - Not Reported - - Dolan BM , et al. (2013)
Molecular profile - Not Reported - - Dolan BM , et al. (2013)

M_FMR1_7_KO_HM_FRAX486_L_d

Model Type: RESCUE-Pharmaceutical
Model Genotype: Homozygous

Mutation:

Homologous recombination against Exon 5 which was interrupted by the positive selection marker gene neomycin followed by administration of FRAX486 at 10 mg/kg for 5 days and tested 8 hrs after final dose.

Allele Type: Knockout
Strain of Origin: Not specified
Genetic Background: FVB

Es cell line: Not specified
Model Source: Not Specified
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Circadian sleep/wake cycle - Not Reported - - Dolan BM , et al. (2013)
Motor phenotype - Not Reported - - Dolan BM , et al. (2013)
Neuroanatomy / Ultrastructure / Cytoarchitecture - Not Reported - - Dolan BM , et al. (2013)
Neurophysiology - Not Reported - - Dolan BM , et al. (2013)
Repetitive behavior - Not Reported - - Dolan BM , et al. (2013)
Seizure Seizures Ameliorated Audiogenic Seizure test 10-17 weeks Dolan BM , et al. (2013)
Sensory - Not Reported - - Dolan BM , et al. (2013)
Social behavior - Not Reported - - Dolan BM , et al. (2013)
Communications - Not Reported - - Dolan BM , et al. (2013)
Developmental profile - Not Reported - - Dolan BM , et al. (2013)
Emotion - Not Reported - - Dolan BM , et al. (2013)
Homeostasis - Not Reported - - Dolan BM , et al. (2013)
Immune response - Not Reported - - Dolan BM , et al. (2013)
Learning & memory - Not Reported - - Dolan BM , et al. (2013)
Maternal behavior - Not Reported - - Dolan BM , et al. (2013)
Molecular profile - Not Reported - - Dolan BM , et al. (2013)

M_FMR1_7_KO_HM_FRAX486_M

Model Type: RESCUE-Pharmaceutical
Model Genotype: Homozygous

Mutation:

Homologous recombination against Exon 5 which was interrupted by the positive selection marker gene neomycin followed by administration of FRAX486 at 20 mg/kg for 8 hours.

Allele Type: Knockout
Strain of Origin: Not specified
Genetic Background: FVB

Es cell line: Not specified
Model Source: Not Specified
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Circadian sleep/wake cycle - Not Reported - - Dolan BM , et al. (2013)
Motor phenotype - Not Reported - - Dolan BM , et al. (2013)
Neuroanatomy / Ultrastructure / Cytoarchitecture Dendritic architecture: spine density No Adverse Effect Golgi-Cox staining 11 weeks Dolan BM , et al. (2013)
Neuroanatomy / Ultrastructure / Cytoarchitecture Dendritic architecture: spine density Restored Golgi-Cox staining 11 weeks Dolan BM , et al. (2013)
Neurophysiology - Not Reported - - Dolan BM , et al. (2013)
Repetitive behavior - Not Reported - - Dolan BM , et al. (2013)
Seizure Seizures Ameliorated Audiogenic Seizure test 10-17 weeks Dolan BM , et al. (2013)
Sensory - Not Reported - - Dolan BM , et al. (2013)
Social behavior - Not Reported - - Dolan BM , et al. (2013)
Communications - Not Reported - - Dolan BM , et al. (2013)
Developmental profile - Not Reported - - Dolan BM , et al. (2013)
Emotion - Not Reported - - Dolan BM , et al. (2013)
Homeostasis - Not Reported - - Dolan BM , et al. (2013)
Immune response - Not Reported - - Dolan BM , et al. (2013)
Learning & memory - Not Reported - - Dolan BM , et al. (2013)
Maternal behavior - Not Reported - - Dolan BM , et al. (2013)
Molecular profile - Not Reported - - Dolan BM , et al. (2013)

M_FMR1_7_KO_HM_FRAX486_M-2

Model Type: RESCUE-Pharmaceutical
Model Genotype: Homozygous

Mutation:

Homologous recombination against Exon 5 which was interrupted by the positive selection marker gene neomycin followed by administration of FRAX486 at 20 mg/kg for one dose and tested 5 days after.

Allele Type: Knockout
Strain of Origin: Not specified
Genetic Background: FVB

Es cell line: Not specified
Model Source: Not Specified
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Circadian sleep/wake cycle - Not Reported - - Dolan BM , et al. (2013)
Motor phenotype - Not Reported - - Dolan BM , et al. (2013)
Neuroanatomy / Ultrastructure / Cytoarchitecture - Not Reported - - Dolan BM , et al. (2013)
Neurophysiology - Not Reported - - Dolan BM , et al. (2013)
Repetitive behavior - Not Reported - - Dolan BM , et al. (2013)
Seizure Seizures Refractory Audiogenic Seizure test 10-17 weeks Dolan BM , et al. (2013)
Sensory - Not Reported - - Dolan BM , et al. (2013)
Social behavior - Not Reported - - Dolan BM , et al. (2013)
Communications - Not Reported - - Dolan BM , et al. (2013)
Developmental profile - Not Reported - - Dolan BM , et al. (2013)
Emotion - Not Reported - - Dolan BM , et al. (2013)
Homeostasis - Not Reported - - Dolan BM , et al. (2013)
Immune response - Not Reported - - Dolan BM , et al. (2013)
Learning & memory - Not Reported - - Dolan BM , et al. (2013)
Maternal behavior - Not Reported - - Dolan BM , et al. (2013)
Molecular profile - Not Reported - - Dolan BM , et al. (2013)

M_FMR1_7_KO_HM_FRAX486_M_d

Model Type: RESCUE-Pharmaceutical
Model Genotype: Homozygous

Mutation:

Homologous recombination against Exon 5 which was interrupted by the positive selection marker gene neomycin followed by administration of FRAX486 at 20 mg/kg for 5 days and tested 8 hours after final dose.

Allele Type: Knockout
Strain of Origin: Not specified
Genetic Background: FVB

Es cell line: Not specified
Model Source: Not Specified
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Circadian sleep/wake cycle - Not Reported - - Dolan BM , et al. (2013)
Motor phenotype Motor coordination and balance No Adverse Effect Accelerating rotarod test 10-17 weeks Dolan BM , et al. (2013)
Motor phenotype General locomotor activity Restored Open field test 10-17 weeks Dolan BM , et al. (2013)
Neuroanatomy / Ultrastructure / Cytoarchitecture - Not Reported - - Dolan BM , et al. (2013)
Neurophysiology - Not Reported - - Dolan BM , et al. (2013)
Repetitive behavior Stereotypy Restored Open field test 10-17 weeks Dolan BM , et al. (2013)
Repetitive behavior Circling Restored Open field test 10-17 weeks Dolan BM , et al. (2013)
Seizure Seizures Restored Audiogenic Seizure test 10-17 weeks Dolan BM , et al. (2013)
Sensory - Not Reported - - Dolan BM , et al. (2013)
Social behavior - Not Reported - - Dolan BM , et al. (2013)
Communications - Not Reported - - Dolan BM , et al. (2013)
Developmental profile Tissue weight Refractory General observations 10-17 weeks Dolan BM , et al. (2013)
Developmental profile Size/growth No Adverse Effect General observations 10-17 weeks Dolan BM , et al. (2013)
Emotion - Not Reported - - Dolan BM , et al. (2013)
Homeostasis - Not Reported - - Dolan BM , et al. (2013)
Immune response - Not Reported - - Dolan BM , et al. (2013)
Learning & memory - Not Reported - - Dolan BM , et al. (2013)
Maternal behavior - Not Reported - - Dolan BM , et al. (2013)
Molecular profile - Not Reported - - Dolan BM , et al. (2013)

M_FMR1_7_KO_HM_FRAX486_M_s

Model Type: RESCUE-Pharmaceutical
Model Genotype: Homozygous

Mutation:

Homologous recombination against Exon 5 which was interrupted by the positive selection marker gene neomycin followed by administration of FRAX486 at 20 mg/kg for one dose and tested 5 days after.

Allele Type: Knockout
Strain of Origin: Not specified
Genetic Background: FVB

Es cell line: Not specified
Model Source: Not Specified
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Circadian sleep/wake cycle - Not Reported - - Dolan BM , et al. (2013)
Motor phenotype - Not Reported - - Dolan BM , et al. (2013)
Neuroanatomy / Ultrastructure / Cytoarchitecture - Not Reported - - Dolan BM , et al. (2013)
Neurophysiology - Not Reported - - Dolan BM , et al. (2013)
Repetitive behavior - Not Reported - - Dolan BM , et al. (2013)
Seizure Seizures Refractory Audiogenic Seizure test 10-17 weeks Dolan BM , et al. (2013)
Sensory - Not Reported - - Dolan BM , et al. (2013)
Social behavior - Not Reported - - Dolan BM , et al. (2013)
Communications - Not Reported - - Dolan BM , et al. (2013)
Developmental profile - Not Reported - - Dolan BM , et al. (2013)
Emotion - Not Reported - - Dolan BM , et al. (2013)
Homeostasis - Not Reported - - Dolan BM , et al. (2013)
Immune response - Not Reported - - Dolan BM , et al. (2013)
Learning & memory - Not Reported - - Dolan BM , et al. (2013)
Maternal behavior - Not Reported - - Dolan BM , et al. (2013)
Molecular profile - Not Reported - - Dolan BM , et al. (2013)

M_FMR1_7_KO_HM_Minocycline

Model Type: RESCUE-Pharmaceutical
Model Genotype: Homozygous

Mutation:

Homologous recombination against Exon 5 which was interrupted by the positive selection marker gene neomycin followed by administration of minocycline at 30 mg/kg/day in drinking water for 4 or 8 weeks.

Allele Type: Knockout
Strain of Origin: Not specified
Genetic Background: FVB

Es cell line: Not specified
Model Source: Not Specified
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Circadian sleep/wake cycle - Not Reported - - Dansie LE , et al. (2013)
Motor phenotype General locomotor activity Restored Elevated plus maze test 4, 8 weeks Dansie LE , et al. (2013)
Motor phenotype General locomotor activity Restored Elevated plus maze test 4, 8 weeks Dansie LE , et al. (2013)
Motor phenotype General locomotor activity Restored Open field test 4, 8 weeks Dansie LE , et al. (2013)
Motor phenotype General locomotor activity Restored Open field test 4, 8 weeks Dansie LE , et al. (2013)
Motor phenotype General locomotor activity Refractory Open field test >2 months Dansie LE , et al. (2013)
Motor phenotype General locomotor activity Restored Open field test >2 months Dansie LE , et al. (2013)
Neuroanatomy / Ultrastructure / Cytoarchitecture - Not Reported - - Dansie LE , et al. (2013)
Neurophysiology - Not Reported - - Dansie LE , et al. (2013)
Repetitive behavior Repetitive digging Refractory Marble-burying test >2 months Dansie LE , et al. (2013)
Repetitive behavior Repetitive digging Restored Marble-burying test >2 months Dansie LE , et al. (2013)
Repetitive behavior Repetitive digging Restored Marble-burying test 4, 8 weeks Dansie LE , et al. (2013)
Repetitive behavior Repetitive digging Restored Marble-burying test 4, 8 weeks; 2 months Dansie LE , et al. (2013)
Seizure Seizures Ameliorated Audiogenic Seizure test 4 weeks Dansie LE , et al. (2013)
Sensory - Not Reported - - Dansie LE , et al. (2013)
Social behavior - Not Reported - - Dansie LE , et al. (2013)
Communications - Not Reported - - Dansie LE , et al. (2013)
Developmental profile - Not Reported - - Dansie LE , et al. (2013)
Emotion Anxiety Restored Elevated plus maze test 4, 8 weeks Dansie LE , et al. (2013)
Emotion Anxiety Restored Elevated plus maze test 4, 8 weeks Dansie LE , et al. (2013)
Homeostasis - Not Reported - - Dansie LE , et al. (2013)
Immune response Adaptive immune response: B cells No Adverse Effect ELISA 10 weeks Dansie LE , et al. (2013)
Learning & memory - Not Reported - - Dansie LE , et al. (2013)
Maternal behavior - Not Reported - - Dansie LE , et al. (2013)
Molecular profile Protein phosphorylation Restored ELISA: multi-kinase >4 weeks Dansie LE , et al. (2013)
Molecular profile Protein phosphorylation Refractory ELISA: multi-kinase >4 weeks Dansie LE , et al. (2013)

M_FMR1_8_KO_HM

Model Type: Genetic
Model Genotype: Homozygous

Mutation:

FMR1 KO mice were originally on the C57Bl/6 background but to generate phenotyped in a mixed C57BL/6 129SveJ background form litters.

Allele Type: Knockout
Strain of Origin: -
Genetic Background: C57BL/6.129SVeJ

Es cell line: -
Model Source: -
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Circadian sleep/wake cycle - Not Reported - - Bhattacharya A , et al. (2012)
Motor phenotype Motor coordination and balance Decreased Accelerating rotarod test Unreported Bhattacharya A , et al. (2012)
Neuroanatomy / Ultrastructure / Cytoarchitecture Dendritic architecture: spine density Increased Golgi-Cox staining 3-4 months Bhattacharya A , et al. (2012)
Neuroanatomy / Ultrastructure / Cytoarchitecture Dendritic architecture: spine density Abnormal Golgi-Cox staining 3-4 months Bhattacharya A , et al. (2012)
Neurophysiology Synaptic plasticity: LTD Increased Whole-cell patch clamp 3-5 weeks Bhattacharya A , et al. (2012)
Repetitive behavior Stereotypy Increased Marble-burying test Unreported Bhattacharya A , et al. (2012)
Seizure - Not Reported - - Bhattacharya A , et al. (2012)
Sensory - Not Reported - - Bhattacharya A , et al. (2012)
Social behavior Social memory Decreased Three-chamber social approach test Unreported Bhattacharya A , et al. (2012)
Social behavior Social interaction Increased Open field test Unreported Bhattacharya A , et al. (2012)
Communications - Not Reported - - Bhattacharya A , et al. (2012)
Developmental profile Size/growth Increased General observations 6 weeks Bhattacharya A , et al. (2012)
Developmental profile Reproductive system development Decreased General observations 3-4 months Bhattacharya A , et al. (2012)
Emotion - Not Reported - - Bhattacharya A , et al. (2012)
Homeostasis - Not Reported - - Bhattacharya A , et al. (2012)
Immune response - Not Reported - - Bhattacharya A , et al. (2012)
Learning & memory Spatial working memory No Change Water Y-maze test: reversal learning Unreported Bhattacharya A , et al. (2012)
Learning & memory Spatial working memory Decreased Water Y-maze test: reversal learning Unreported Bhattacharya A , et al. (2012)
Learning & memory Object recognition memory Decreased Novel object recognition test Unreported Bhattacharya A , et al. (2012)
Maternal behavior - Not Reported - - Bhattacharya A , et al. (2012)
Molecular profile Regulation of translation Increased Surface sensing of translation (SUnSET) Unreported Bhattacharya A , et al. (2012)
Molecular profile Protein phosphorylation Increased Western blot Unreported Bhattacharya A , et al. (2012)
Molecular profile Protein modification process Increased Immunohistochemistry 8-10 weeks Bhattacharya A , et al. (2012)
Molecular profile Protein expression level evidence No Change Western blot Unreported Bhattacharya A , et al. (2012)
Molecular profile Protein expression level evidence Increased Western blot Unreported Bhattacharya A , et al. (2012)

M_FMR1_8_KO_HM_S6K1_DM-hm

Model Type: RESCUE-Genetic
Model Genotype: Homozygous

Mutation:

FMR1 KO were crossed with homozygous S6K1 KO mice to produce double knockout, maintained in the mixed background. As they used males, FMR1 was hemizygous.

Allele Type: Knockout
Strain of Origin: Not specified
Genetic Background: C57BL/6.129SVeJ

Es cell line: Not specified
Model Source: Not Specified
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Circadian sleep/wake cycle - Not Reported - - Bhattacharya A , et al. (2012)
Motor phenotype Motor coordination and balance Restored Accelerating rotarod test 4-6 months Bhattacharya A , et al. (2012)
Neuroanatomy / Ultrastructure / Cytoarchitecture Dendritic architecture: spine density Restored Golgi-Cox staining P90-P100 Bhattacharya A , et al. (2012)
Neuroanatomy / Ultrastructure / Cytoarchitecture Dendritic architecture: spine density Restored Golgi-Cox staining P90-P100 Bhattacharya A , et al. (2012)
Neurophysiology Synaptic plasticity: LTD Restored Whole-cell patch clamp P23-P35 Bhattacharya A , et al. (2012)
Neurophysiology Presynaptic function: paired-pulse facilitation No Adverse Effect Whole-cell patch clamp 3-5 weeks Bhattacharya A , et al. (2012)
Repetitive behavior Stereotypy Refractory Marble-burying test 4-6 months Bhattacharya A , et al. (2012)
Seizure - Not Reported - - Bhattacharya A , et al. (2012)
Sensory - Not Reported - - Bhattacharya A , et al. (2012)
Social behavior Social interaction Refractory Open field test 4-6 months Bhattacharya A , et al. (2012)
Social behavior Social approach Restored Three-chamber social approach test 4-6 months Bhattacharya A , et al. (2012)
Communications - Not Reported - - Bhattacharya A , et al. (2012)
Developmental profile Size/growth Restored General observations P28-P84 Bhattacharya A , et al. (2012)
Developmental profile General characteristics No Adverse Effect General observations Unreported Bhattacharya A , et al. (2012)
Developmental profile Developmental trajectory Restored General observations P90-P100 Bhattacharya A , et al. (2012)
Emotion - Not Reported - - Bhattacharya A , et al. (2012)
Homeostasis - Not Reported - - Bhattacharya A , et al. (2012)
Immune response - Not Reported - - Bhattacharya A , et al. (2012)
Learning & memory Spatial working memory Restored Water Y-maze test: reversal learning 4-6 months Bhattacharya A , et al. (2012)
Learning & memory Spatial working memory No Adverse Effect Water Y-maze test: reversal learning 4-6 months Bhattacharya A , et al. (2012)
Learning & memory Object recognition memory Restored Novel object recognition test 4-6 months Bhattacharya A , et al. (2012)
Maternal behavior - Not Reported - - Bhattacharya A , et al. (2012)
Molecular profile Regulation of translation Restored Surface sensing of translation (SUnSET) 4-6 weeks Bhattacharya A , et al. (2012)
Molecular profile Protein phosphorylation Restored Western blot 2 months Bhattacharya A , et al. (2012)
Molecular profile Protein phosphorylation Restored Immunohistochemistry 8-10 weeks Bhattacharya A , et al. (2012)
Molecular profile Protein expression level evidence Refractory Western blot 2 months Bhattacharya A , et al. (2012)
Molecular profile Protein expression level evidence Restored Western blot 2 months Bhattacharya A , et al. (2012)

M_FMR1_8_KO_HM_S6K1_DM-ht

Model Type: RESCUE-Genetic
Model Genotype: Homozygous

Mutation:

FMR1 KO were crossed with homozygous S6K1 KO mice to produce double knockout, maintained in the mixed background. As they used males, FMR1 was hemizygous.

Allele Type: Knockout
Strain of Origin: Not specified
Genetic Background: C57BL/6.129SVeJ

Es cell line: Not specified
Model Source: Not Specified
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Circadian sleep/wake cycle - Not Reported - - Bhattacharya A , et al. (2012)
Motor phenotype - Not Reported - - Bhattacharya A , et al. (2012)
Neuroanatomy / Ultrastructure / Cytoarchitecture - Not Reported - - Bhattacharya A , et al. (2012)
Neurophysiology Synaptic plasticity: LTD Refractory Whole-cell patch clamp P23-P35 Bhattacharya A , et al. (2012)
Repetitive behavior - Not Reported - - Bhattacharya A , et al. (2012)
Seizure - Not Reported - - Bhattacharya A , et al. (2012)
Sensory - Not Reported - - Bhattacharya A , et al. (2012)
Social behavior - Not Reported - - Bhattacharya A , et al. (2012)
Communications - Not Reported - - Bhattacharya A , et al. (2012)
Developmental profile - Not Reported - - Bhattacharya A , et al. (2012)
Emotion - Not Reported - - Bhattacharya A , et al. (2012)
Homeostasis - Not Reported - - Bhattacharya A , et al. (2012)
Immune response - Not Reported - - Bhattacharya A , et al. (2012)
Learning & memory - Not Reported - - Bhattacharya A , et al. (2012)
Maternal behavior - Not Reported - - Bhattacharya A , et al. (2012)
Molecular profile Protein phosphorylation Refractory Western blot 3-4 months Bhattacharya A , et al. (2012)

M_FMR1_9_KO_HM

Model Type: Genetic
Model Genotype: Homozygous

Mutation:

FMR1 KO mice, floxed at exon 5, maintained in the mixed background of C57Bl/6 and 129P2.

Allele Type: Knockout
Strain of Origin: -
Genetic Background: C57BL/6.129P2

Es cell line: -
Model Source: -
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Circadian sleep/wake cycle - Not Reported - - Selby L , et al. (2007)
Motor phenotype - Not Reported - - Selby L , et al. (2007)
Neuroanatomy / Ultrastructure / Cytoarchitecture Neuronal number: Interneurons Decreased Immunohistochemistry 12 months Selby L , et al. (2007)
Neuroanatomy / Ultrastructure / Cytoarchitecture Brain morphology No Change Immunohistochemistry 12 months Selby L , et al. (2007)
Neuroanatomy / Ultrastructure / Cytoarchitecture Brain morphology No Change Immunohistochemistry 12 months Selby L , et al. (2007)
Neuroanatomy / Ultrastructure / Cytoarchitecture Brain morphology Increased Immunohistochemistry 12 months Selby L , et al. (2007)
Neuroanatomy / Ultrastructure / Cytoarchitecture Brain morphology Decreased Immunohistochemistry 12 months Selby L , et al. (2007)
Neuroanatomy / Ultrastructure / Cytoarchitecture Brain cytoarchitecture Increased Cell size measurement 12 months Selby L , et al. (2007)
Neurophysiology - Not Reported - - Selby L , et al. (2007)
Repetitive behavior - Not Reported - - Selby L , et al. (2007)
Seizure - Not Reported - - Selby L , et al. (2007)
Sensory - Not Reported - - Selby L , et al. (2007)
Social behavior - Not Reported - - Selby L , et al. (2007)
Communications - Not Reported - - Selby L , et al. (2007)
Developmental profile - Not Reported - - Selby L , et al. (2007)
Emotion - Not Reported - - Selby L , et al. (2007)
Homeostasis - Not Reported - - Selby L , et al. (2007)
Immune response - Not Reported - - Selby L , et al. (2007)
Learning & memory - Not Reported - - Selby L , et al. (2007)
Maternal behavior - Not Reported - - Selby L , et al. (2007)
Molecular profile Protein expression level evidence Increased Immunohistochemistry 12 months Selby L , et al. (2007)
Molecular profile Protein expression level evidence Decreased Immunohistochemistry 12 months Selby L , et al. (2007)

M_SYNGAP1_9_KO_FMR1_DM

Model Type: Genetic
Model Genotype: Hemizygous (Fmr1), heterozygous (Syngap1)

Mutation:

Syngap1 het mice were mated with FMR1-/+ females to get FMR1-/y:Syngap1+/- mice.

Allele Type: Knockout
Strain of Origin: 129P2/OlaHsd*C57BL/6JOla
Genetic Background: -

Es cell line: -
Model Source: -
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Circadian sleep/wake cycle - Not Reported - - Barnes SA , et al. (2015)
Motor phenotype - Not Reported - - Barnes SA , et al. (2015)
Neuroanatomy / Ultrastructure / Cytoarchitecture - Not Reported - - Barnes SA , et al. (2015)
Neurophysiology Synaptic plasticity: hippocampal LTD Increased Field potential recordings 3-4.5 weeks Barnes SA , et al. (2015)
Repetitive behavior - Not Reported - - Barnes SA , et al. (2015)
Seizure - Not Reported - - Barnes SA , et al. (2015)
Sensory - Not Reported - - Barnes SA , et al. (2015)
Social behavior - Not Reported - - Barnes SA , et al. (2015)
Communications - Not Reported - - Barnes SA , et al. (2015)
Developmental profile - Not Reported - - Barnes SA , et al. (2015)
Emotion - Not Reported - - Barnes SA , et al. (2015)
Homeostasis - Not Reported - - Barnes SA , et al. (2015)
Immune response - Not Reported - - Barnes SA , et al. (2015)
Learning & memory - Not Reported - - Barnes SA , et al. (2015)
Maternal behavior - Not Reported - - Barnes SA , et al. (2015)
Molecular profile - Not Reported - - Barnes SA , et al. (2015)
Other FMR1 Rescue Models(17 Models)
M_FMR1_1_KO_HM 2 Genetic Pharmaceutical BW-723C86;MDL-11,939
M_FMR1_1_KO_HM 1 Genetic Pharmaceutical BW-723C86;MDL-11,939;SKF-81,297;Sulpiride
M_FMR1_1_KO_HM 1 Genetic Genetic inactivation of one allele of App gene
M_FMR1_1_KO_HM 2 Genetic Pharmaceutical CTEP
M_FMR1_1_KO_HM 1 Genetic Pharmaceutical CX-4945
M_FMR1_1_KO_HM 2 Genetic Pharmaceutical SKF-81,297;Sulpiride
M_FMR1_1_KO_HM 3 Genetic Pharmaceutical JQ1
M_FMR1_1_KO_HM 1 Genetic Pharmaceutical CX-4945;JQ1
M_FMR1_1_KO_HM 2 Genetic Pharmaceutical Lithium
M_FMR1_1_KO_HM 3 Genetic Pharmaceutical Minocycline
M_FMR1_1_KO_HM 1 Genetic Pharmaceutical MPEP
M_FMR1_3_KO_HM 2 Genetic Pharmaceutical Bumetanide
M_FMR1_2_KO_HM 2 Genetic Pharmaceutical CTEP
M_FMR1_8_KO_HM 1 Genetic Genetic inactivation of S6K1 gene
M_FMR1_8_KO_HM 1 Genetic Genetic inactivation of one copy of S6K1
M_FMR1_7_KO_HM 12 Genetic Pharmaceutical FRAX486
M_FMR1_7_KO_HM 1 Genetic Pharmaceutical Minocycline
CNVs associated with FMR1(1 Models)
Xq27.3 12 Deletion-Duplication 20  /  113
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