Genetic Mouse Models / CHD8

CHD8 chromodomain helicase DNA binding protein 8

Model Species
Mus musculus
Gene Aliases
5830451P18Rik, AU015341, Duplin, HELSNF1, mKIAA1564
Reports
12
Associated Human Genes
CHD8
Models / Rescue Models
33 / 5
Rescue Model
-
Model Summary

Chd8 null mice die in embryonic stages (E8.5-E12.5). Heterozygous Chd8 mutant mice display ASD-like behaviors such as increased anxiety, impaired social interaction and social memory, and increased perseveration. Chd8 hets also have decreased length of intestine, slower intestinal transit, and impaired sensory. Chd8 knockdown brains exhibit abnormal corticogenesis and also display increased anxiety and decreased social approach. The Wnt-beta-catenin signaling pathway is down-regulated in Chd8 knockdowns and the Chd8 related phenotypes can be rescued by expressing beta-catenin.

Reports related to CHD8 (12 Reports)
# Type Title Author, Year
1 Additional CHD8 suppresses p53-mediated apoptosis through histone H1 recruitment during early embryogenesis. Nishiyama M , et al. (2009)
2 Additional Effects of high dietary sodium chloride content on performance and sodium and potassium balance in growing pigs. Chittavong M , et al. (2013)
3 Primary CHD8 haploinsufficiency results in autistic-like phenotypes in mice. Katayama Y , et al. (2016)
4 Additional Chd8 mediates cortical neurogenesis via transcriptional regulation of cell cycle and Wnt signaling. Durak O , et al. (2016)
5 Additional Chd8 Mutation Leads to Autistic-like Behaviors and Impaired Striatal Circuits. Platt RJ , et al. (2017)
6 Additional Germline Chd8 haploinsufficiency alters brain development in mouse. Gompers AL , et al. (2017)
7 Additional Altered Neocortical Gene Expression, Brain Overgrowth and Functional Over-Connectivity in Chd8 Haploinsufficient Mice. Suetterlin P , et al. (2018)
8 Additional Dual Requirement of CHD8 for Chromatin Landscape Establishment and Histone Methyltransferase Recruitment to Promote CNS Myelination and Repair. Zhao C , et al. (2018)
9 Additional Sexually dimorphic behavior, neuronal activity, and gene expression in Chd8-mutant mice. Jung H , et al. (2018)
10 Additional Chd8 haploinsufficiency impairs early brain development and protein homeostasis later in life Jiménez JA et al. (2020)
11 Additional The autism-associated protein CHD8 is required for cerebellar development and motor function Kawamura A et al. (2021)
12 Additional Cell-type-specific synaptic imbalance and disrupted homeostatic plasticity in cortical circuits of ASD-associated Chd8 haploinsufficient mice Ellingford RA et al. (2021)
Show all Construct Details Show all Phenotypic Profiles

M_CHD8_10_KO_HT

Model Type: Genetic
Model Genotype: Heterozygous

Mutation:

Mouse model with a Cas9 mediated heterozygous germline frameshift deletion of 5 bp nucleotides in exon 5.

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

Es cell line: Not reported
Model Source: Nord laboratory, UC Davis (PMID 28671691)
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Physiological parameters Reproductive function No change General observations Adult Gompers AL , et al. (2017)
Physiological parameters NA Not reported NA NA Gompers AL , et al. (2017)
Circadian sleep/wake cycle NA Not reported NA NA Gompers AL , et al. (2017)
Motor phenotype General locomotor activity No change Open field test 2-4 months Gompers AL , et al. (2017)
Neuroanatomy / Ultrastructure / Cytoarchitecture Morphology of the amygdala Increased Magnetic resonance imaging (mri) 2-4 months Gompers AL , et al. (2017)
Neuroanatomy / Ultrastructure / Cytoarchitecture Hippocampal morphology Increased Magnetic resonance imaging (mri) 2-4 months Gompers AL , et al. (2017)
Neuroanatomy / Ultrastructure / Cytoarchitecture Cortical thickness Increased Magnetic resonance imaging (mri) 2-4 months Gompers AL , et al. (2017)
Neuroanatomy / Ultrastructure / Cytoarchitecture Cortical thickness No change Histology P7 Gompers AL , et al. (2017)
Neuroanatomy / Ultrastructure / Cytoarchitecture Cortical lamination No change Immunohistochemistry P0, p7 Gompers AL , et al. (2017)
Neuroanatomy / Ultrastructure / Cytoarchitecture Cell proliferation: neural precursors Decreased Immunohistochemistry E14.5 Gompers AL , et al. (2017)
Neuroanatomy / Ultrastructure / Cytoarchitecture Cell proliferation: neural precursors Increased Immunohistochemistry E14.5 Gompers AL , et al. (2017)
Neuroanatomy / Ultrastructure / Cytoarchitecture Cell proliferation: neural precursors Decreased Pulse-chase analysis E14.5 Gompers AL , et al. (2017)
Neuroanatomy / Ultrastructure / Cytoarchitecture Cell proliferation: neural precursors Increased Edu incorporation E13.5 Gompers AL , et al. (2017)
Neuroanatomy / Ultrastructure / Cytoarchitecture Brain size Increased Histology P0, p7 Gompers AL , et al. (2017)
Neuroanatomy / Ultrastructure / Cytoarchitecture Brain morphology No change Histology P7 Gompers AL , et al. (2017)
Neuroanatomy / Ultrastructure / Cytoarchitecture Brain morphology Increased Magnetic resonance imaging (mri) 2-4 months Gompers AL , et al. (2017)
Neurophysiology Functional magnetic resonance imaging: connectivity No change Magnetic resonance imaging (mri) 2-4 months Gompers AL , et al. (2017)
Repetitive behavior Self grooming: perseveration No change Grooming behavior assessments 2-4 months Gompers AL , et al. (2017)
Repetitive behavior Repetitive digging No change Marble-burying test 2-4 months Gompers AL , et al. (2017)
Seizure NA Not reported NA NA Gompers AL , et al. (2017)
Sensory NA Not reported NA NA Gompers AL , et al. (2017)
Social behavior Social interaction: opposite sex No change Reciprocal social interaction test 2-4 months Gompers AL , et al. (2017)
Social behavior Social approach No change Three-chamber social approach test 2-4 months Gompers AL , et al. (2017)
Communications Ultrasonic vocalization: interaction induced: opposite sex stimulus No change Monitoring ultrasonic vocalizations 2-4 months Gompers AL , et al. (2017)
Developmental profile Size/growth No change Body weight measurement 2-4 months Gompers AL , et al. (2017)
Developmental profile Mortality/lethality No change General observations Adult Gompers AL , et al. (2017)
Emotion NA Not reported NA NA Gompers AL , et al. (2017)
Immune response NA Not reported NA NA Gompers AL , et al. (2017)
Learning & memory Object recognition memory Decreased Novel object recognition test 2-4 months Gompers AL , et al. (2017)
Learning & memory Cued or contextual fear conditioning: memory of cue Decreased Fear conditioning test 2-4 months Gompers AL , et al. (2017)
Learning & memory Cued or contextual fear conditioning: memory of context Decreased Fear conditioning test 2-4 months Gompers AL , et al. (2017)
Maternal behavior NA Not reported NA NA Gompers AL , et al. (2017)
Molecular profile Targeted expression Decreased Quantitative pcr (qrt-pcr) E14.5, p0, adult Gompers AL , et al. (2017)
Molecular profile Targeted expression Decreased Western blot E14.5, p0, adult Gompers AL , et al. (2017)
Molecular profile Protein expression level evidence Decreased Western blot P0 Gompers AL , et al. (2017)
Molecular profile Gene expression Decreased Rna sequencing E12.5, e14.5, e17.5 & p0 Gompers AL , et al. (2017)
Molecular profile Gene expression Abnormal Rna sequencing E12.5, e14.5, e17.5 p0, 2-4 months Gompers AL , et al. (2017)

M_CHD8_11_KO_HT

Model Type: Genetic
Model Genotype: Heterozygous

Mutation:

Chd8 haploinsufficient mice with targeted deletion of exon3 genrated by inserting a loxP/FRT-PGK-gb2-Neo cassette 214 bp 3 of exon 3 and an additional single loxP site 5' of exon3. Chimeras were bred with Flpe deleter mice to excise the neo cassette and produce Chd8^flox/+ mice that were crossed with beta-actin-Cre mice. Cre-mediated deletion of loxP-flanked exon 3 results in an early frameshift and termination of translation at amino acid 419, that produces a protein that lacks all functional domains, equivalent to nonsense and frameshift mutations terminating CHD8 at amino acids 62 and 747 in patients.

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

Es cell line: C57BL/6
Model Source: PMID 29668850
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Physiological parameters NA Not reported NA NA Suetterlin P , et al. (2018)
Circadian sleep/wake cycle NA Not reported NA NA Suetterlin P , et al. (2018)
Motor phenotype Spontaneous movement Decreased Home cage behavior 2 weeks Suetterlin P , et al. (2018)
Motor phenotype Righting response Decreased Righting reflex test 2 weeks Suetterlin P , et al. (2018)
Motor phenotype Motor coordination and balance No change Accelerating rotarod test Adult Suetterlin P , et al. (2018)
Motor phenotype Hypoactivity Increased Running wheel test Adult Suetterlin P , et al. (2018)
Motor phenotype Hypoactivity Increased Open field test Adult Suetterlin P , et al. (2018)
Motor phenotype Hyperactivity Phenovalue Home cage behavior 2 weeks Suetterlin P , et al. (2018)
Motor phenotype Grip strength Decreased Grip strength test Adult Suetterlin P , et al. (2018)
Neuroanatomy / Ultrastructure / Cytoarchitecture Synapse density: Inhibitory Increased Immunostaining P20 Ellingford RA et al. (2021)
Neuroanatomy / Ultrastructure / Cytoarchitecture Synapse density: Excitatory No change Whole-cell current clamp P14 Ellingford RA et al. (2021)
Neuroanatomy / Ultrastructure / Cytoarchitecture Neuronal morphology No change Sholl analysis P22 Ellingford RA et al. (2021)
Neuroanatomy / Ultrastructure / Cytoarchitecture Dendritic architecture: spine density No change Sholl analysis P20, P14 Ellingford RA et al. (2021)
Neuroanatomy / Ultrastructure / Cytoarchitecture Dendritic architecture: dendritic tree complexity No change Sholl analysis P22 Ellingford RA et al. (2021)
Neuroanatomy / Ultrastructure / Cytoarchitecture Hippocampal morphology Increased Magnetic resonance imaging (mri) Adult Suetterlin P , et al. (2018)
Neuroanatomy / Ultrastructure / Cytoarchitecture Cortical thickness Increased Magnetic resonance imaging (mri) Adult Suetterlin P , et al. (2018)
Neuroanatomy / Ultrastructure / Cytoarchitecture Cerebellar morphology Increased Magnetic resonance imaging (mri) Adult Suetterlin P , et al. (2018)
Neuroanatomy / Ultrastructure / Cytoarchitecture Cell proliferation: neural precursors No change Immunohistochemistry E12.5, e16.5, p0 Suetterlin P , et al. (2018)
Neuroanatomy / Ultrastructure / Cytoarchitecture Brain size Increased Magnetic resonance imaging (mri) Adult, 0-5 weeks Suetterlin P , et al. (2018)
Neuroanatomy / Ultrastructure / Cytoarchitecture Anatomical projections and connectivity Decreased Rna sequencing P5 Suetterlin P , et al. (2018)
Neurophysiology Synaptic transmission: inhibitory Increased Whole-cell voltage clamp P20 Ellingford RA et al. (2021)
Neurophysiology Synaptic transmission: excitatory Decreased Whole-cell voltage clamp P20 Ellingford RA et al. (2021)
Neurophysiology Synaptic transmission Decreased Whole-cell current clamp P13-P15 Ellingford RA et al. (2021)
Neurophysiology Presynaptic function: paired-pulse facilitation Increased Paired-pulse ratio P20 Ellingford RA et al. (2021)
Neurophysiology Miniature post synaptic current frequency: inhibitory Increased Whole-cell voltage clamp P20 Ellingford RA et al. (2021)
Neurophysiology Miniature post synaptic current frequency: excitatory Decreased Whole-cell voltage clamp P20-adult Ellingford RA et al. (2021)
Neurophysiology Miniature post synaptic current amplitude: inhibitory No change Whole-cell voltage clamp P20 Ellingford RA et al. (2021)
Neurophysiology Miniature post synaptic current amplitude: excitatory Decreased Whole-cell voltage clamp P14, P20, adult Ellingford RA et al. (2021)
Neurophysiology Membrane potential No change Whole-cell current clamp P19-21 Ellingford RA et al. (2021)
Neurophysiology Intrinsic membrane properties No change Whole-cell current clamp P19-21 Ellingford RA et al. (2021)
Neurophysiology EPSP-spike relationship No change Whole-cell current clamp P19-21 Ellingford RA et al. (2021)
Neurophysiology Action potential property: threshold No change Whole-cell current clamp P19-21 Ellingford RA et al. (2021)
Neurophysiology Action potential property: half-width No change Whole-cell current clamp P19-21 Ellingford RA et al. (2021)
Neurophysiology Action potential property: firing rate Decreased Whole-cell current clamp P20 Ellingford RA et al. (2021)
Neurophysiology Action potential property: firing pattern No change Whole-cell current clamp P19-21 Ellingford RA et al. (2021)
Neurophysiology Action potential property: amplitude No change Whole-cell current clamp P19-21 Ellingford RA et al. (2021)
Neurophysiology Functional magnetic resonance imaging: connectivity Increased Functional magnetic resonance imaging (fmri)-resting state Adult Suetterlin P , et al. (2018)
Repetitive behavior Self grooming: perseveration No change Grooming behavior assessments Adult Suetterlin P , et al. (2018)
Repetitive behavior Repetitive digging Decreased Marble-burying test Adult Suetterlin P , et al. (2018)
Seizure NA Not reported NA NA Suetterlin P , et al. (2018)
Sensory Olfaction No change Olfactory discrimination test Adult Suetterlin P , et al. (2018)
Social behavior Social interaction Increased Reciprocal social interaction test Adult Suetterlin P , et al. (2018)
Social behavior Social approach Increased Three-chamber social approach test Adult Suetterlin P , et al. (2018)
Social behavior Social approach Increased Olfactory habituation-dishabituation test Adult Suetterlin P , et al. (2018)
Communications Ultrasonic vocalization: isolation induced No change Monitoring ultrasonic vocalizations 2 weeks Suetterlin P , et al. (2018)
Developmental profile Skeletal development: craniofacial Decreased Cranial computerized tomography (ct) scan Adult Suetterlin P , et al. (2018)
Developmental profile Size/growth Decreased Body weight measurement P4-p35 Suetterlin P , et al. (2018)
Developmental profile Developmental trajectory Decreased General observations 2 weeks Suetterlin P , et al. (2018)
Emotion Anxiety No change Light-dark exploration test Adult Suetterlin P , et al. (2018)
Emotion Anxiety No change Open field test Adult Suetterlin P , et al. (2018)
Immune response NA Not reported NA NA Suetterlin P , et al. (2018)
Learning & memory Spatial reference memory No change Morris water maze test Adult Suetterlin P , et al. (2018)
Learning & memory Cognitive flexibility No change Morris water maze test Adult Suetterlin P , et al. (2018)
Maternal behavior NA Not reported NA NA Suetterlin P , et al. (2018)
Molecular profile Targeted expression Decreased Quantitative pcr (qrt-pcr) E12.5, p5 Suetterlin P , et al. (2018)
Molecular profile Gene expression Abnormal Rna sequencing E12.5, p5 Suetterlin P , et al. (2018)
Molecular profile Cell adhesion Decreased Rna sequencing P5 Suetterlin P , et al. (2018)

M_CHD8_12_CKO_HM

Model Type: Genetic
Model Genotype: Homozygous

Mutation:

Conditional deletion of exon 4 of the Chd8 gene (floxed mice produced by the CRISPR-Cas9 system) using Olig1-cre, in primitive oligodendrocyte precursor cells (OPCs) prior to expression of PDGFRa+ in OPCs

Allele Type: Conditional loss-of-function
Strain of Origin: Not specified
Genetic Background: C57BL/6 * 129Sv

Es cell line: -
Model Source: -
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Physiological parameters NA Not reported NA NA Zhao C , et al. (2018)
Physiological parameters Apoptosis No change Immunohistochemistry P1, p7 Zhao C , et al. (2018)
Circadian sleep/wake cycle NA Not reported NA NA Zhao C , et al. (2018)
Motor phenotype Tremor Increased General observations 3 weeks onwards Zhao C , et al. (2018)
Motor phenotype Clasping reflex Increased General observations 3 weeks onwards Zhao C , et al. (2018)
Neuroanatomy / Ultrastructure / Cytoarchitecture Neuronal differentiation No change NA P14 Zhao C , et al. (2018)
Neuroanatomy / Ultrastructure / Cytoarchitecture Myelination Decreased Electron microscopy 2 weeks, p1 Zhao C , et al. (2018)
Neuroanatomy / Ultrastructure / Cytoarchitecture Myelination Decreased Microscopic analysis 2 weeks, p1 Zhao C , et al. (2018)
Neuroanatomy / Ultrastructure / Cytoarchitecture Myelination Decreased In situ hybridization (ish) 2 weeks, p1 Zhao C , et al. (2018)
Neuroanatomy / Ultrastructure / Cytoarchitecture Myelination Decreased Quantitative pcr (qrt-pcr) P7 Zhao C , et al. (2018)
Neuroanatomy / Ultrastructure / Cytoarchitecture Brain development Decreased In situ hybridization (ish) E14.5 - 2 weeks Zhao C , et al. (2018)
Neuroanatomy / Ultrastructure / Cytoarchitecture Brain development No change In situ hybridization (ish) P1, p14 Zhao C , et al. (2018)
Neuroanatomy / Ultrastructure / Cytoarchitecture Brain development Decreased Immunohistochemistry P1 Zhao C , et al. (2018)
Neurophysiology Apoptosis: brain cells Increased Immunohistochemistry Adult Zhao C , et al. (2018)
Repetitive behavior NA Not reported NA NA Zhao C , et al. (2018)
Seizure Seizures Increased General observations 2 weeks, 2.5 weeks Zhao C , et al. (2018)
Sensory NA Not reported NA NA Zhao C , et al. (2018)
Social behavior NA Not reported NA NA Zhao C , et al. (2018)
Communications NA Not reported NA NA Zhao C , et al. (2018)
Developmental profile Mortality/lethality Increased General observations 3 weeks Zhao C , et al. (2018)
Emotion NA Not reported NA NA Zhao C , et al. (2018)
Immune response NA Not reported NA NA Zhao C , et al. (2018)
Learning & memory NA Not reported NA NA Zhao C , et al. (2018)
Maternal behavior NA Not reported NA NA Zhao C , et al. (2018)
Molecular profile Targeted expression Decreased Immunohistochemistry P14 Zhao C , et al. (2018)
Molecular profile Targeted expression No change Immunohistochemistry P14 Zhao C , et al. (2018)
Molecular profile Protein-dna complex assembly Decreased Chromatin immunoprecipitation sequencing (chip-seq) P7 Zhao C , et al. (2018)
Molecular profile Protein-dna complex assembly Decreased Chromatin immunoprecipitation (chip) P7 Zhao C , et al. (2018)
Molecular profile Gene expression Abnormal Rna sequencing P7 Zhao C , et al. (2018)
Molecular profile Dna methylation Decreased Cpg methylomics analysis P7 Zhao C , et al. (2018)
Molecular profile Chromatin modification Decreased Assay for transposase-accessible chromatin with high-throughput sequencing (atac-seq) P7 Zhao C , et al. (2018)
Molecular profile Cell proliferation No change Immunohistochemistry P1 Zhao C , et al. (2018)
Molecular profile Cell proliferation Decreased Immunohistochemistry P1 Zhao C , et al. (2018)

M_CHD8_12_CKO_HM_CPI-455

Model Type: RESCUE-Pharmaceutical
Model Genotype: Homozygous

Mutation:

Conditional knockout mice with selective ablation of Chd8 in the oligodendrocyte lineage were intraperitoneally injected with CPI-455, a blood-brain barrier-permeable, potent and selective inhibitor of the KDM5 subfamily of histone demethylases, between P1 and P7.

Allele Type: Conditional loss-of-function
Strain of Origin: Not specified
Genetic Background: C57BL/6 * 129Sv

Es cell line: -
Model Source: -
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Physiological parameters NA Not reported NA NA Zhao C , et al. (2018)
Circadian sleep/wake cycle NA Not reported NA NA Zhao C , et al. (2018)
Motor phenotype NA Not reported NA NA Zhao C , et al. (2018)
Neuroanatomy / Ultrastructure / Cytoarchitecture Number of oligodendrocytes Ameliorated Immunohistochemistry P7 Zhao C , et al. (2018)
Neuroanatomy / Ultrastructure / Cytoarchitecture Myelination Ameliorated Immunohistochemistry P14 Zhao C , et al. (2018)
Neurophysiology NA Not reported NA NA Zhao C , et al. (2018)
Repetitive behavior NA Not reported NA NA Zhao C , et al. (2018)
Seizure NA Not reported NA NA Zhao C , et al. (2018)
Sensory NA Not reported NA NA Zhao C , et al. (2018)
Social behavior NA Not reported NA NA Zhao C , et al. (2018)
Communications NA Not reported NA NA Zhao C , et al. (2018)
Developmental profile NA Not reported NA NA Zhao C , et al. (2018)
Emotion NA Not reported NA NA Zhao C , et al. (2018)
Immune response NA Not reported NA NA Zhao C , et al. (2018)
Learning & memory NA Not reported NA NA Zhao C , et al. (2018)
Maternal behavior NA Not reported NA NA Zhao C , et al. (2018)
Molecular profile Dna methylation Ameliorated Cpg methylomics analysis P7 Zhao C , et al. (2018)
Molecular profile Cell differentiation Ameliorated Immunohistochemistry P14 Zhao C , et al. (2018)

M_CHD8_13_CKO_HM

Model Type: Genetic
Model Genotype: Homozygous

Mutation:

Conditional deletion of exon 4 of the Chd8 gene (floxed mice produced by the CRISPR-Cas9 system) using PDGFRa-creERT, in oligodendrocyte precursor cells (OPCs) expressing PDGFRa by treatment with tamoxifen from P3-P7

Allele Type: Conditional loss-of-function
Strain of Origin: Not specified
Genetic Background: C57BL/6 * 129Sv

Es cell line: -
Model Source: Ai6, Jax laboratory
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Physiological parameters NA Not reported NA NA Zhao C , et al. (2018)
Physiological parameters Apoptosis Increased Immunohistochemistry P14 Zhao C , et al. (2018)
Circadian sleep/wake cycle NA Not reported NA NA Zhao C , et al. (2018)
Motor phenotype NA Not reported NA NA Zhao C , et al. (2018)
Neuroanatomy / Ultrastructure / Cytoarchitecture Number of oligodendrocytes Decreased Immunohistochemistry P14 Zhao C , et al. (2018)
Neuroanatomy / Ultrastructure / Cytoarchitecture Number of oligodendrocytes No change Immunohistochemistry P14 Zhao C , et al. (2018)
Neuroanatomy / Ultrastructure / Cytoarchitecture Myelination Decreased Immunohistochemistry P14 Zhao C , et al. (2018)
Neurophysiology NA Not reported NA NA Zhao C , et al. (2018)
Repetitive behavior NA Not reported NA NA Zhao C , et al. (2018)
Seizure NA Not reported NA NA Zhao C , et al. (2018)
Sensory NA Not reported NA NA Zhao C , et al. (2018)
Social behavior NA Not reported NA NA Zhao C , et al. (2018)
Communications NA Not reported NA NA Zhao C , et al. (2018)
Developmental profile NA Not reported NA NA Zhao C , et al. (2018)
Emotion NA Not reported NA NA Zhao C , et al. (2018)
Immune response NA Not reported NA NA Zhao C , et al. (2018)
Learning & memory NA Not reported NA NA Zhao C , et al. (2018)
Maternal behavior NA Not reported NA NA Zhao C , et al. (2018)
Molecular profile Targeted expression Decreased Immunohistochemistry P14 Zhao C , et al. (2018)
Molecular profile Cell proliferation No change Immunohistochemistry P14 Zhao C , et al. (2018)
Molecular profile Cell differentiation No change Immunohistochemistry P14 Zhao C , et al. (2018)
Molecular profile Cell differentiation Decreased Immunohistochemistry P14 Zhao C , et al. (2018)

M_CHD8_14_CKO_HM

Model Type: Genetic
Model Genotype: Homozygous

Mutation:

Conditional deletion of exon 4 of the Chd8 gene (floxed mice produced by the CRISPR-Cas9 system) using Synapsin1-cre, in neuronal cells

Allele Type: Conditional loss-of-function
Strain of Origin: Not specified
Genetic Background: C57BL/6 * 129Sv

Es cell line: -
Model Source: -
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Physiological parameters NA Not reported NA NA Zhao C , et al. (2018)
Circadian sleep/wake cycle NA Not reported NA NA Zhao C , et al. (2018)
Motor phenotype NA Not reported NA NA Zhao C , et al. (2018)
Neuroanatomy / Ultrastructure / Cytoarchitecture Number of oligodendrocytes No change Immunohistochemistry P14 Zhao C , et al. (2018)
Neuroanatomy / Ultrastructure / Cytoarchitecture Myelination No change Immunohistochemistry P14 Zhao C , et al. (2018)
Neurophysiology NA Not reported NA NA Zhao C , et al. (2018)
Repetitive behavior NA Not reported NA NA Zhao C , et al. (2018)
Seizure NA Not reported NA NA Zhao C , et al. (2018)
Sensory NA Not reported NA NA Zhao C , et al. (2018)
Social behavior NA Not reported NA NA Zhao C , et al. (2018)
Communications NA Not reported NA NA Zhao C , et al. (2018)
Developmental profile NA Not reported NA NA Zhao C , et al. (2018)
Emotion NA Not reported NA NA Zhao C , et al. (2018)
Immune response NA Not reported NA NA Zhao C , et al. (2018)
Learning & memory NA Not reported NA NA Zhao C , et al. (2018)
Maternal behavior NA Not reported NA NA Zhao C , et al. (2018)
Molecular profile NA Not reported NA NA Zhao C , et al. (2018)

M_CHD8_15_CKO_HM

Model Type: Genetic
Model Genotype: Homozygous

Mutation:

Conditional deletion of exon 4 of the Chd8 gene (floxed mice produced by the CRISPR-Cas9 system) using PDGFRa-creERT, in oligodendrocyte precursor cells (OPCs) expressing PDGFRa by treatment with tamoxifen at 8 weeks of age

Allele Type: Conditional loss-of-function
Strain of Origin: Not specified
Genetic Background: C57BL/6 * 129Sv

Es cell line: -
Model Source: -
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Physiological parameters NA Not reported NA NA Zhao C , et al. (2018)
Circadian sleep/wake cycle NA Not reported NA NA Zhao C , et al. (2018)
Motor phenotype NA Not reported NA NA Zhao C , et al. (2018)
Neuroanatomy / Ultrastructure / Cytoarchitecture Number of oligodendrocytes Decreased Immunofluorescence staining 10, 12 weeks Zhao C , et al. (2018)
Neuroanatomy / Ultrastructure / Cytoarchitecture Myelination Decreased Electron microscopy 10, 12 weeks Zhao C , et al. (2018)
Neuroanatomy / Ultrastructure / Cytoarchitecture Myelination Decreased In situ hybridization (ish) 10, 12 weeks Zhao C , et al. (2018)
Neurophysiology NA Not reported NA NA Zhao C , et al. (2018)
Repetitive behavior NA Not reported NA NA Zhao C , et al. (2018)
Seizure NA Not reported NA NA Zhao C , et al. (2018)
Sensory NA Not reported NA NA Zhao C , et al. (2018)
Social behavior NA Not reported NA NA Zhao C , et al. (2018)
Communications NA Not reported NA NA Zhao C , et al. (2018)
Developmental profile NA Not reported NA NA Zhao C , et al. (2018)
Emotion NA Not reported NA NA Zhao C , et al. (2018)
Immune response NA Not reported NA NA Zhao C , et al. (2018)
Learning & memory NA Not reported NA NA Zhao C , et al. (2018)
Maternal behavior NA Not reported NA NA Zhao C , et al. (2018)
Molecular profile Cell proliferation Decreased Immunohistochemistry 10, 12 weeks Zhao C , et al. (2018)

M_CHD8_16_KO_HT

Model Type: Genetic
Model Genotype: Heterozygous

Mutation:

Mice carrying a heterozygous frameshift point mutation in Chd8 (N2373K) previously identified in humans (Asn2373fsX2) with ASD. Chd8^N2373K/+ mice express a C-terminally truncated protein.

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

Es cell line: -
Model Source: -
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Physiological parameters NA Not reported NA NA Jung H , et al. (2018)
Circadian sleep/wake cycle NA Not reported NA NA Jung H , et al. (2018)
Motor phenotype Self grooming: artificial stress evoked Increased Grooming behavior assessments 8-9 weeks Jung H , et al. (2018)
Motor phenotype Motor learning No change Accelerating rotarod test Adult Jung H , et al. (2018)
Motor phenotype General locomotor activity: ambulatory activity Decreased Open field test Adult Jung H , et al. (2018)
Motor phenotype General locomotor activity: ambulatory activity No change Open field test 3.3 weeks Jung H , et al. (2018)
Neuroanatomy / Ultrastructure / Cytoarchitecture Post-synaptic density size: inhibitory synapses No change Immunohistochemistry 3.3 weeks Jung H , et al. (2018)
Neuroanatomy / Ultrastructure / Cytoarchitecture Post-synaptic density size: excitatory synapses No change Immunohistochemistry 3.3 weeks Jung H , et al. (2018)
Neuroanatomy / Ultrastructure / Cytoarchitecture Hippocampal morphology No change Immunohistochemistry 3.3 weeks Jung H , et al. (2018)
Neuroanatomy / Ultrastructure / Cytoarchitecture Brain size Increased Magnetic resonance imaging (mri) 4 weeks Jung H , et al. (2018)
Neuroanatomy / Ultrastructure / Cytoarchitecture Brain morphology No change Immunohistochemistry 3.3 weeks Jung H , et al. (2018)
Neuroanatomy / Ultrastructure / Cytoarchitecture Anatomical projections and connectivity No change Diffusion tensor imaging (dti) 4weeks Jung H , et al. (2018)
Neurophysiology Synaptic transmission: inhibitory No change Whole-cell patch clamp 2-3 months Jung H , et al. (2018)
Neurophysiology Synaptic transmission: inhibitory Increased Whole-cell patch clamp 2-3 months Jung H , et al. (2018)
Neurophysiology Synaptic transmission: excitatory Increased Whole-cell patch clamp 2-3 months Jung H , et al. (2018)
Neurophysiology Synaptic transmission: excitatory No change Whole-cell patch clamp 2-3 months Jung H , et al. (2018)
Neurophysiology Spontaneous post synaptic event frequency: inhibitory currents No change Whole-cell patch clamp P19-27 Jung H , et al. (2018)
Neurophysiology Spontaneous post synaptic event frequency: excitatory currents No change Whole-cell patch clamp P19-27 Jung H , et al. (2018)
Neurophysiology Spontaneous post synaptic event amplitude: inhibitory currents No change Whole-cell patch clamp P19-27 Jung H , et al. (2018)
Neurophysiology Spontaneous post synaptic event amplitude: excitatory currents No change Whole-cell patch clamp P19-27 Jung H , et al. (2018)
Neurophysiology Presynaptic function: paired-pulse facilitation No change Whole-cell patch clamp P19-27 Jung H , et al. (2018)
Neurophysiology Neuronal activation Increased Immunohistochemistry P19-20 Jung H , et al. (2018)
Neurophysiology Neuronal activation Decreased Immunohistochemistry P19-20 Jung H , et al. (2018)
Neurophysiology Neuronal activation No change Immunohistochemistry P19-20 Jung H , et al. (2018)
Neurophysiology Neuronal activation No change Immunohistochemistry P19-20 Jung H , et al. (2018)
Neurophysiology Neuronal activation Decreased Immunohistochemistry P19-20 Jung H , et al. (2018)
Neurophysiology Neuronal activation Decreased Immunohistochemistry P19-20 Jung H , et al. (2018)
Neurophysiology Miniature post synaptic current frequency: inhibitory No change Whole-cell patch clamp P22-p25 Jung H , et al. (2018)
Neurophysiology Miniature post synaptic current frequency: inhibitory Decreased Whole-cell patch clamp P19-27 Jung H , et al. (2018)
Neurophysiology Miniature post synaptic current frequency: inhibitory Increased Whole-cell patch clamp P19-27 Jung H , et al. (2018)
Neurophysiology Miniature post synaptic current frequency: excitatory No change Whole-cell patch clamp P22-p25 Jung H , et al. (2018)
Neurophysiology Miniature post synaptic current frequency: excitatory No change Whole-cell patch clamp P19-27 Jung H , et al. (2018)
Neurophysiology Miniature post synaptic current amplitude: inhibitory No change Whole-cell patch clamp P22-p25 Jung H , et al. (2018)
Neurophysiology Miniature post synaptic current amplitude: inhibitory Decreased Whole-cell patch clamp P19-27 Jung H , et al. (2018)
Neurophysiology Miniature post synaptic current amplitude: inhibitory No change Whole-cell patch clamp P19-27 Jung H , et al. (2018)
Neurophysiology Miniature post synaptic current amplitude: excitatory No change Whole-cell patch clamp P19-27 Jung H , et al. (2018)
Neurophysiology Miniature post synaptic current amplitude: excitatory No change Whole-cell patch clamp P22-p25 Jung H , et al. (2018)
Neurophysiology Local field potential No change Whole-cell patch clamp 2-3 months Jung H , et al. (2018)
Neurophysiology Intrinsic membrane properties No change Whole-cell patch clamp P19-27 Jung H , et al. (2018)
Neurophysiology Intrinsic bursting events or spikes Increased Whole-cell patch clamp 2-3 months Jung H , et al. (2018)
Neurophysiology Intrinsic bursting events or spikes Decreased Whole-cell patch clamp 2-3 months Jung H , et al. (2018)
Neurophysiology Action potential property: firing rate No change Whole-cell patch clamp P19-27 Jung H , et al. (2018)
Neurophysiology Action potential property: firing rate No change Whole-cell patch clamp P22-p25 Jung H , et al. (2018)
Repetitive behavior Vertical jumping or back flipping No change Home cage behavior 3.3 weeks Jung H , et al. (2018)
Repetitive behavior Self grooming: perseveration No change Home cage behavior 3.3, 9 weeks Jung H , et al. (2018)
Repetitive behavior Repetitive nose pokes No change Hole-board test 10 weeks Jung H , et al. (2018)
Repetitive behavior Repetitive digging No change Marble-burying test 10 weeks Jung H , et al. (2018)
Repetitive behavior Repetitive digging No change Home cage behavior 3.3 weeks Jung H , et al. (2018)
Seizure NA Not reported NA NA Jung H , et al. (2018)
Sensory Sensorimotor gating No change Prepulse inhibition Adult Jung H , et al. (2018)
Sensory Olfaction No change Olfactory discrimination test Adult Jung H , et al. (2018)
Social behavior Social interaction No change Reciprocal social interaction test Adult Jung H , et al. (2018)
Social behavior Social approach No change Three-chamber social approach test Adult Jung H , et al. (2018)
Social behavior Social approach Increased Home cage behavior 2.7 weeks Jung H , et al. (2018)
Social behavior Nest building behavior No change Nest building assay Adult Jung H , et al. (2018)
Social behavior Juvenile play No change Home cage behavior 3.3 weeks Jung H , et al. (2018)
Social behavior Huddling behavior No change Home cage behavior Adult Jung H , et al. (2018)
Communications Ultrasonic vocalization: isolation induced Increased Monitoring ultrasonic vocalizations P5, p7, p9, p11 Jung H , et al. (2018)
Communications Ultrasonic vocalization: interaction induced: opposite sex stimulus No change Monitoring ultrasonic vocalizations Adult Jung H , et al. (2018)
Developmental profile Size/growth No change Body weight measurement P7, p10, p13, p16, p21 Jung H , et al. (2018)
Developmental profile Mortality/lethality No change Survival analysis P0 Jung H , et al. (2018)
Emotion Depression No change Tail suspension test Adult Jung H , et al. (2018)
Emotion Anxiety No change Elevated plus maze test Adult Jung H , et al. (2018)
Emotion Anxiety No change Light-dark exploration test Adult Jung H , et al. (2018)
Emotion Anxiety Decreased Open field test Adult Jung H , et al. (2018)
Emotion Anxiety No change Open field test 3.3 weeks Jung H , et al. (2018)
Immune response NA Not reported NA NA Jung H , et al. (2018)
Learning & memory Spatial working memory No change Morris water maze test Adult Jung H , et al. (2018)
Learning & memory Spatial reference memory No change Morris water maze test Adult Jung H , et al. (2018)
Learning & memory Object recognition memory No change Novel object recognition test Adult Jung H , et al. (2018)
Learning & memory Cued or contextual fear conditioning: memory of context No change Fear conditioning test Adult Jung H , et al. (2018)
Learning & memory Cognitive flexibility No change Morris water maze test Adult Jung H , et al. (2018)
Maternal behavior NA Not reported NA NA Jung H , et al. (2018)
Molecular profile Targeted expression Decreased Western blot E15.5-p7 Jung H , et al. (2018)
Molecular profile Protein expression level evidence No change Whole-cell patch clamp P2 Jung H , et al. (2018)
Molecular profile Gene expression No change Quantitative pcr (qrt-pcr) P0 Jung H , et al. (2018)
Molecular profile Gene expression Abnormal Quantitative pcr (qrt-pcr) P25 Jung H , et al. (2018)

M_CHD8_17_TG_HM_V986STOP

Model Type: Genetic LOF
Model Genotype: Homozygous

Mutation:

Mice harboring an insertion introducing tandem stop codons at amino acid positions v986 and e987 (v986*; stop codon mutation)

Allele Type: Transgene (asd mutation)
Strain of Origin: C57BL/6J
Genetic Background: C57BL/6J

Es cell line: -
Model Source: -
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Developmental profile Mortality/lethality: embryonic Increased Survival analysis P0 Jiménez JA et al. (2020)

M_CHD8_18_TG_HT_V986STOP

Model Type: Genetic LOF
Model Genotype: Heterozygous

Mutation:

Mice harboring an insertion introducing tandem stop codons at amino acid positions v986 and e987 (v986*; stop codon mutation)

Allele Type: Transgene (asd mutation)
Strain of Origin: C57BL/6J
Genetic Background: C57BL/6J

Es cell line: -
Model Source: -
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Motor phenotype Rearing behavior Decreased Open field test 6.3 months, 12.4 months Jiménez JA et al. (2020)
Motor phenotype General locomotor activity: Ambulatory activity No change Open field test 6.3 months, 12.4 months Jiménez JA et al. (2020)
Neuroanatomy / Ultrastructure / Cytoarchitecture Brain size Increased Measurement of tissue weight P0 Jiménez JA et al. (2020)
Repetitive behavior Repetitive digging No change Marble-burying test 6.8 weeks Jiménez JA et al. (2020)
Sensory Startle response: acoustic stimulus No change Acoustic startle reflex test 6.8 weeks Jiménez JA et al. (2020)
Sensory Sensorimotor gating No change Prepulse inhibition 6.8 weeks Jiménez JA et al. (2020)
Sensory Olfaction No change Buried food test 6.8 weeks Jiménez JA et al. (2020)
Social behavior Social memory Increased Three-chamber social approach test 6.6 months, 12.9 months Jiménez JA et al. (2020)
Social behavior Social interaction Increased Tube test of social dominance 8-10 weeks Jiménez JA et al. (2020)
Social behavior Social approach Increased Three-chamber social approach test 6.6 months, 12.9 months Jiménez JA et al. (2020)
Developmental profile Size/growth Decreased Body weight measurement P0, 5.9 weeks Jiménez JA et al. (2020)
Developmental profile Mortality/lethality: neonatal Increased Survival analysis P0-P2 Jiménez JA et al. (2020)
Developmental profile Developmental trajectory Abnormal RNA sequencing P0-Adult Jiménez JA et al. (2020)
Emotion Anxiety No change Elevated plus maze test 6 months Jiménez JA et al. (2020)
Emotion Anxiety Increased Open field test 6.3 months, 12.4 months Jiménez JA et al. (2020)
Molecular profile Targeted expression Decreased Western blot P0 Jiménez JA et al. (2020)
Molecular profile Targeted expression Decreased RNA sequencing E14.5, 1, 6, 12 months Jiménez JA et al. (2020)
Molecular profile Signaling: UPR pathway Decreased Immunofluorescence staining 12 month Jiménez JA et al. (2020)
Molecular profile Signaling: mTOR pathway Decreased RNA sequencing E14.5, 1, 6, 12 months Jiménez JA et al. (2020)
Molecular profile Signaling: mTOR pathway Decreased Immunofluorescence staining 12 month Jiménez JA et al. (2020)
Molecular profile Differential gene expression Abnormal RNA sequencing E14.5, 1, 6, 12 months Jiménez JA et al. (2020)

M_CHD8_19_CKO_HM

Model Type: Genetic LOF
Model Genotype: Homozygous

Mutation:

Nestin-cre/chd8l^f/f cko mice with neural precursor or stem cell specific deletion of chd8 were generated by crossing chd8l^f/f mice with pair of loxp sites flanking exons 11 to 13 was to nestin cre recombinase mice. offspring were backcrossed onto the c57bl/6j line for at least nine generations.

Allele Type: Conditional knockout
Strain of Origin: Not reported
Genetic Background: C57BL/6J

Es cell line: Not reported
Model Source: Not reported
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Category Mortality/lethality: postnatal: incomplete penetrance Increased Kaplan-Meier survival curve P0-1 month Kawamura A et al. (2021)
Neuroanatomy / Ultrastructure / Cytoarchitecture Cerebellar morphology Decreased Histology P0, P7, P14 Kawamura A et al. (2021)
Neuroanatomy / Ultrastructure / Cytoarchitecture Cerebellar morphology Decreased Gross necroscopy Adult Kawamura A et al. (2021)
Neuroanatomy / Ultrastructure / Cytoarchitecture Cerebellar foliation Decreased Histology P0, P7, P14 Kawamura A et al. (2021)
Neuroanatomy / Ultrastructure / Cytoarchitecture Brain size Decreased Gross necroscopy Adult Kawamura A et al. (2021)
Developmental profile Size/growth Decreased Body weight measurement P14 Kawamura A et al. (2021)
Molecular profile Targeted expression Decreased Quantitative PCR (qRT-PCR) P0, P3, P7, P14 Kawamura A et al. (2021)

M_CHD8_1_KO_HM

Model Type: Genetic
Model Genotype: Homozygous

Mutation:

Targeted deletion of all the exons of the Chd8 gene.

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

Es cell line: Not specified
Model Source: Not specified
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Physiological parameters NA Not reported NA NA Nishiyama M , et al. (2009)
Circadian sleep/wake cycle NA Not reported NA NA Nishiyama M , et al. (2009)
Motor phenotype NA Not reported NA NA Nishiyama M , et al. (2009)
Neuroanatomy / ultrastructure / cytoarchitecture NA Not reported NA NA Nishiyama M , et al. (2009)
Neurophysiology NA Not reported NA NA Nishiyama M , et al. (2009)
Repetitive behavior NA Not reported NA NA Nishiyama M , et al. (2009)
Seizure NA Not reported NA NA Nishiyama M , et al. (2009)
Sensory NA Not reported NA NA Nishiyama M , et al. (2009)
Social behavior NA Not reported NA NA Nishiyama M , et al. (2009)
Communications NA Not reported NA NA Nishiyama M , et al. (2009)
Developmental profile Size/growth Decreased Histology Unreported Nishiyama M , et al. (2009)
Developmental profile Mortality/lethality: embryonic Increased General observations E5.5-e10.5 Nishiyama M , et al. (2009)
Emotion NA Not reported NA NA Nishiyama M , et al. (2009)
Immune response NA Not reported NA NA Nishiyama M , et al. (2009)
Learning & memory NA Not reported NA NA Nishiyama M , et al. (2009)
Maternal behavior NA Not reported NA NA Nishiyama M , et al. (2009)
Molecular profile NA Not reported NA NA Nishiyama M , et al. (2009)

M_CHD8_1_KO_HT

Model Type: Genetic
Model Genotype: Heterozygous

Mutation:

Targeted deletion of all the exons of the Chd8 gene.

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

Es cell line: Not specified
Model Source: Not specified
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Physiological parameters Bioactive compound levels No change Enzyme assay 8–12 weeks -
Physiological parameters Bioactive compound levels Decreased Enzyme assay 8–12 weeks -
Physiological parameters NA Not reported NA NA Katayama Y , et al. (2016)
Physiological parameters Digestive system function: gastrointestinal motility No change Measurement of gi motility 9 weeks Katayama Y , et al. (2016)
Circadian sleep/wake cycle NA Not reported NA NA Katayama Y , et al. (2016)
Motor phenotype General locomotor activity: Ambulatory activity No change Open field test 8–12 weeks -
Motor phenotype NA Not reported NA NA Katayama Y , et al. (2016)
Neuroanatomy / Ultrastructure / Cytoarchitecture Brain size No change Measurement of tissue weight E14.5 Katayama Y , et al. (2016)
Neuroanatomy / Ultrastructure / Cytoarchitecture Brain size Increased Measurement of tissue weight E18.5; 9 weeks Katayama Y , et al. (2016)
Neuroanatomy / Ultrastructure / Cytoarchitecture Brain size Increased Cranial computerized tomography (ct) scan E18.5; 9 weeks Katayama Y , et al. (2016)
Neurophysiology NA Not reported NA NA Katayama Y , et al. (2016)
Repetitive behavior NA Not reported NA NA Katayama Y , et al. (2016)
Seizure NA Not reported NA NA Katayama Y , et al. (2016)
Sensory NA Not reported NA NA Katayama Y , et al. (2016)
Social behavior Social memory No change Three-chamber social approach test 8–12 weeks -
Social behavior Social memory Decreased Three-chamber social approach test 8–12 weeks -
Social behavior Social approach No change Three-chamber social approach test 8–12 weeks -
Social behavior NA Not reported NA NA Katayama Y , et al. (2016)
Communications NA Not reported NA NA Katayama Y , et al. (2016)
Developmental profile Digestive system development Decreased General observations 9 weeks Katayama Y , et al. (2016)
Emotion Depression No change Tail suspension test 8–12 weeks -
Emotion Depression No change Open field test 8–12 weeks -
Emotion Depression No change Sucrose preference test 8–12 weeks -
Emotion Depression Increased Open field test 8–12 weeks -
Emotion Depression Increased Open field test 8–12 weeks -
Emotion Depression Increased Tail suspension test 8–12 weeks -
Emotion Depression Decreased Sucrose preference test 8–12 weeks -
Emotion Anxiety Increased Light-dark exploration test 8–12 weeks -
Emotion Anxiety No change Open field test 8–12 weeks -
Emotion Anxiety Decreased Modified open field test with social object 8–12 weeks -
Emotion Anxiety Increased Elevated plus maze test 8–12 weeks -
Emotion NA Not reported NA NA Katayama Y , et al. (2016)
Immune response NA Not reported NA NA Katayama Y , et al. (2016)
Learning & memory NA Not reported NA NA Katayama Y , et al. (2016)
Maternal behavior Pup retrieval No change Pup retrieval assay Adult -
Maternal behavior NA Not reported NA NA Katayama Y , et al. (2016)
Molecular profile Targeted expression No change Western blot E10.5 and 9 weeks Katayama Y , et al. (2016)
Molecular profile Targeted expression No change Quantitative pcr (qrt-pcr) E10.5 and 9 weeks Katayama Y , et al. (2016)
Molecular profile Targeted expression Decreased Western blot E10.5, e14.5, e18.5, and 9 weeks Katayama Y , et al. (2016)
Molecular profile Targeted expression Decreased Quantitative pcr (qrt-pcr) E10.5, e14.5, e18.5, and 9 weeks Katayama Y , et al. (2016)

M_CHD8_1_KO_HT_OXT

Model Type: RESCUE-Pharmaceutical
Model Genotype: Heterozygous

Mutation:

Targeted deletion of all the exons of the chd8 gene. mice were administered saline or ot (100 ng/100 g of body weight), approximately 0.3 ml per mice intraperitoneally (i.p.), 30 min before the start of experiments.

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
Social behavior Social memory Ameliorated Three-chamber social approach test 8–12 weeks -
Social behavior Social memory Side effect Three-chamber social approach test 8–12 weeks -
Emotion Anxiety Refractory Light-dark exploration test 8–12 weeks -
Emotion Anxiety Restored Light-dark exploration test 8–12 weeks -

M_CHD8_20_CKO_HT

Model Type: Genetic LOF
Model Genotype: Heterozygous

Mutation:

Nestin-cre/chd8l^f/+ cko mice with neural precursor or stem cell specific deletion of chd8 were generated by crossing chd8l^f/+ mice with pair of loxp sites flanking exons 11 to 13 was to nestin cre recombinase mice. offspring were backcrossed onto the c57bl/6j line for at least nine generations.

Allele Type: Conditional knockout
Strain of Origin: Not reported
Genetic Background: C57BL/6J

Es cell line: Not reported
Model Source: Not reported
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Category Mortality/lethality: postnatal: incomplete penetrance No change Kaplan-Meier survival curve P0-1 month Kawamura A et al. (2021)
Neuroanatomy / Ultrastructure / Cytoarchitecture Cerebellar morphology No change Gross necroscopy Adult Kawamura A et al. (2021)
Neuroanatomy / Ultrastructure / Cytoarchitecture Cerebellar morphology No change Histology P0, P7, P14 Kawamura A et al. (2021)
Neuroanatomy / Ultrastructure / Cytoarchitecture Cerebellar foliation No change Histology P0, P7, P14 Kawamura A et al. (2021)
Neuroanatomy / Ultrastructure / Cytoarchitecture Brain size No change Gross necroscopy Adult Kawamura A et al. (2021)
Developmental profile Size/growth No change General observations P14 Kawamura A et al. (2021)
Molecular profile Targeted expression Decreased Quantitative PCR (qRT-PCR) P0, P3, P7, P14 Kawamura A et al. (2021)

M_CHD8_21_CKO_HM

Model Type: Genetic LOF
Model Genotype: Homozygous

Mutation:

Atoh1-cre/chd8l^f/f cko mice with granule neuron progenitor-specific deletion of chd8 were generated by crossing chd8l^f/f mice with pair of loxp sites flanking exons 11 to 13 was to nestin cre recombinase mice. offspring were backcrossed onto the c57bl/6j line for at least nine generations.

Allele Type: Conditional knockout
Strain of Origin: Not reported
Genetic Background: C57BL/6J

Es cell line: Not reported
Model Source: Not reported
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Motor phenotype Motor learning No change Accelerating rotarod test 8-10 weeks Kawamura A et al. (2021)
Motor phenotype Motor coordination and balance No change Wire hang test 8-10 weeks Kawamura A et al. (2021)
Motor phenotype Motor coordination and balance Decreased Balance beam test 8-10 weeks Kawamura A et al. (2021)
Motor phenotype Motor coordination and balance Decreased Accelerating rotarod test 8-10 weeks Kawamura A et al. (2021)
Motor phenotype Grip strength No change Grip strength test 8-10 weeks Kawamura A et al. (2021)
Motor phenotype General locomotor activity: Ambulatory activity No change Open field test 8-10 weeks Kawamura A et al. (2021)
Motor phenotype General locomotor activity No change Elevated plus maze test 8-10 weeks Kawamura A et al. (2021)
Neuroanatomy / Ultrastructure / Cytoarchitecture Synapse density: Excitatory Decreased Immunostaining 5-6 weeks Kawamura A et al. (2021)
Neuroanatomy / Ultrastructure / Cytoarchitecture Neuroreceptor levels: glutamate receptors: AMPA receptors Decreased Western blot P7 Kawamura A et al. (2021)
Neuroanatomy / Ultrastructure / Cytoarchitecture Neuronal differentiation Increased Immunostaining P0, P3 Kawamura A et al. (2021)
Neuroanatomy / Ultrastructure / Cytoarchitecture Neocortex morphology No change Measurement of tissue weight 9-13 weeks Kawamura A et al. (2021)
Neuroanatomy / Ultrastructure / Cytoarchitecture Dendritic architecture: dendritic tree complexity Decreased Sholl analysis 8-10 weeks Kawamura A et al. (2021)
Neuroanatomy / Ultrastructure / Cytoarchitecture Cerebellar morphology: granule cell layer thickness Decreased Histology P0-Adult Kawamura A et al. (2021)
Neuroanatomy / Ultrastructure / Cytoarchitecture Cerebellar morphology Decreased Measurement of tissue weight 9-13 weeks Kawamura A et al. (2021)
Neuroanatomy / Ultrastructure / Cytoarchitecture Cerebellar morphology Abnormal Immunostaining 10 weeks Kawamura A et al. (2021)
Neuroanatomy / Ultrastructure / Cytoarchitecture Cell proliferation: neural precursors: granule cell precursors Decreased Quantitative PCR (qRT-PCR) P0 Kawamura A et al. (2021)
Neuroanatomy / Ultrastructure / Cytoarchitecture Cell proliferation: neural precursors Decreased Immunostaining P0, P3, P7, P14 Kawamura A et al. (2021)
Neuroanatomy / Ultrastructure / Cytoarchitecture Brain size No change Gross necroscopy Adult Kawamura A et al. (2021)
Neurophysiology Presynaptic function: paired-pulse facilitation Increased Whole-cell patch clamp P21, P40 Kawamura A et al. (2021)
Neurophysiology Neuronal apoptosis No change Immunostaining P0, P3 Kawamura A et al. (2021)
Neurophysiology Miniature post synaptic current frequency: inhibitory Decreased Whole-cell patch clamp P21, P40 Kawamura A et al. (2021)
Neurophysiology Miniature post synaptic current frequency: excitatory No change Whole-cell patch clamp P21, P40 Kawamura A et al. (2021)
Neurophysiology Miniature post synaptic current amplitude: inhibitory Decreased Whole-cell patch clamp P21, P40 Kawamura A et al. (2021)
Neurophysiology Miniature post synaptic current amplitude: excitatory Decreased Whole-cell patch clamp P21, P40 Kawamura A et al. (2021)
Repetitive behavior Repetitive digging No change Marble-burying test 8-10 weeks Kawamura A et al. (2021)
Sensory Hearing No change Auditory brainstem response test 8 weeks Kawamura A et al. (2021)
Social behavior Social memory No change Three-chamber social approach test 8-10 weeks Kawamura A et al. (2021)
Social behavior Social interaction No change Reciprocal social interaction test 8-10 weeks Kawamura A et al. (2021)
Social behavior Social approach No change Three-chamber social approach test 8-10 weeks Kawamura A et al. (2021)
Developmental profile Size/growth No change Body weight measurement 9-13 weeks Kawamura A et al. (2021)
Developmental profile Developmental trajectory No change Immunostaining P7 Kawamura A et al. (2021)
Emotion Anxiety No change Open field test 8-10 weeks Kawamura A et al. (2021)
Emotion Anxiety No change Elevated plus maze test 8-10 weeks Kawamura A et al. (2021)
Molecular profile Differential gene expression Abnormal RNA sequencing P7 Kawamura A et al. (2021)
Molecular profile Chromatin modification: Histone modification: Open chromatin Decreased Formaldehyde-assisted isolation of regulatory elements (FAIRE) P7 Kawamura A et al. (2021)

M_CHD8_22_CKO_HT

Model Type: Genetic LOF
Model Genotype: Heterozygous

Mutation:

Atoh1-cre/chd8l^f/+ cko mice with granule neuron progenitor-specific deletion of chd8 were generated by crossing chd8l^f/+ mice with pair of loxp sites flanking exons 11 to 13 was to nestin cre recombinase mice. offspring were backcrossed onto the c57bl/6j line for at least nine generations.

Allele Type: Conditional knockout
Strain of Origin: Not reported
Genetic Background: C57BL/6J

Es cell line: Not reported
Model Source: Not reported
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Motor phenotype Motor learning No change Accelerating rotarod test 8-10 weeks Kawamura A et al. (2021)
Motor phenotype Motor coordination and balance No change Balance beam test 8-10 weeks Kawamura A et al. (2021)
Motor phenotype Motor coordination and balance No change Wire hang test 8-10 weeks Kawamura A et al. (2021)
Motor phenotype Grip strength No change Grip strength test 8-10 weeks Kawamura A et al. (2021)
Motor phenotype General locomotor activity: Ambulatory activity No change Open field test 8-10 weeks Kawamura A et al. (2021)
Motor phenotype General locomotor activity No change Elevated plus maze test 8-10 weeks Kawamura A et al. (2021)
Neuroanatomy / Ultrastructure / Cytoarchitecture Neocortex morphology No change Measurement of tissue weight 9-13 weeks Kawamura A et al. (2021)
Neuroanatomy / Ultrastructure / Cytoarchitecture Dendritic architecture: dendritic tree complexity No change Sholl analysis 8-10 weeks Kawamura A et al. (2021)
Neuroanatomy / Ultrastructure / Cytoarchitecture Cerebellar morphology No change Immunostaining 10 weeks Kawamura A et al. (2021)
Neuroanatomy / Ultrastructure / Cytoarchitecture Cerebellar morphology No change Measurement of tissue weight 9-13 weeks Kawamura A et al. (2021)
Neuroanatomy / Ultrastructure / Cytoarchitecture Cerebellar morphology No change Histology P0-Adult Kawamura A et al. (2021)
Neuroanatomy / Ultrastructure / Cytoarchitecture Brain size No change Gross necroscopy Adult Kawamura A et al. (2021)
Repetitive behavior Repetitive digging No change Marble-burying test 8-10 weeks Kawamura A et al. (2021)
Social behavior Social memory No change Three-chamber social approach test 8-10 weeks Kawamura A et al. (2021)
Social behavior Social interaction No change Reciprocal social interaction test 8-10 weeks Kawamura A et al. (2021)
Social behavior Social approach No change Three-chamber social approach test 8-10 weeks Kawamura A et al. (2021)
Developmental profile Size/growth No change Body weight measurement 9-13 weeks Kawamura A et al. (2021)
Emotion Anxiety No change Open field test 8-10 weeks Kawamura A et al. (2021)
Emotion Anxiety No change Elevated plus maze test 8-10 weeks Kawamura A et al. (2021)

M_CHD8_23_CKO_HM

Model Type: Genetic LOF
Model Genotype: Homozygous

Mutation:

Pcp2-cre/chd8l^f/f cko mice with purkinje-cell-specific deletion of chd8 were generated by crossing chd8l^f/f mice with pair of loxp sites flanking exons 11 to 13 was to nestin cre recombinase mice. offspring were backcrossed onto the c57bl/6j line for at least nine generations.

Allele Type: Conditional knockout
Strain of Origin: Not reported
Genetic Background: C57BL/6J

Es cell line: Not reported
Model Source: Not reported
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Motor phenotype Motor coordination and balance No change Balance beam test 8-10 weeks Kawamura A et al. (2021)
Motor phenotype Motor coordination and balance No change Wire hang test 8-10 weeks Kawamura A et al. (2021)
Motor phenotype Grip strength No change Grip strength test 8-10 weeks Kawamura A et al. (2021)
Motor phenotype General locomotor activity: Ambulatory activity No change Open field test 8-10 weeks Kawamura A et al. (2021)
Motor phenotype General locomotor activity No change Elevated plus maze test 8-10 weeks Kawamura A et al. (2021)
Neuroanatomy / Ultrastructure / Cytoarchitecture Neuronal number: Purkinje cells No change Immunostaining 10 weeks Kawamura A et al. (2021)
Neuroanatomy / Ultrastructure / Cytoarchitecture Neocortex morphology No change Measurement of tissue weight 9-13 weeks Kawamura A et al. (2021)
Neuroanatomy / Ultrastructure / Cytoarchitecture Cerebellar morphology No change Immunostaining 10 weeks Kawamura A et al. (2021)
Neuroanatomy / Ultrastructure / Cytoarchitecture Cerebellar morphology No change Measurement of tissue weight 9-13 weeks Kawamura A et al. (2021)
Neuroanatomy / Ultrastructure / Cytoarchitecture Cerebellar morphology No change Histology 10 weeks Kawamura A et al. (2021)
Repetitive behavior Repetitive digging No change Marble-burying test 8-10 weeks Kawamura A et al. (2021)
Social behavior Social memory No change Three-chamber social approach test 8-10 weeks Kawamura A et al. (2021)
Social behavior Social interaction No change Reciprocal social interaction test 8-10 weeks Kawamura A et al. (2021)
Social behavior Social approach No change Three-chamber social approach test 8-10 weeks Kawamura A et al. (2021)
Developmental profile Size/growth No change Body weight measurement 9-13 weeks Kawamura A et al. (2021)
Emotion Anxiety No change Open field test 8-10 weeks Kawamura A et al. (2021)
Emotion Anxiety No change Elevated plus maze test 8-10 weeks Kawamura A et al. (2021)

M_CHD8_24_CKO_HT

Model Type: Genetic LOF
Model Genotype: Heterozygous

Mutation:

Pcp2-cre/chd8l^f/+ cko mice with purkinje-cell-specific deletion of chd8 were generated by crossing chd8l^f/+ mice with pair of loxp sites flanking exons 11 to 13 was to nestin cre recombinase mice. offspring were backcrossed onto the c57bl/6j line for at least nine generations.

Allele Type: Conditional knockout
Strain of Origin: Not reported
Genetic Background: C57BL/6J

Es cell line: Not reported
Model Source: Not reported
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Motor phenotype Motor coordination and balance No change Balance beam test 8-10 weeks Kawamura A et al. (2021)
Motor phenotype Motor coordination and balance No change Wire hang test 8-10 weeks Kawamura A et al. (2021)
Motor phenotype Grip strength No change Grip strength test 8-10 weeks Kawamura A et al. (2021)
Motor phenotype General locomotor activity: Ambulatory activity No change Open field test 8-10 weeks Kawamura A et al. (2021)
Motor phenotype General locomotor activity No change Elevated plus maze test 8-10 weeks Kawamura A et al. (2021)
Neuroanatomy / Ultrastructure / Cytoarchitecture Neuronal number: Purkinje cells No change Immunostaining 10 weeks Kawamura A et al. (2021)
Neuroanatomy / Ultrastructure / Cytoarchitecture Neocortex morphology No change Measurement of tissue weight 9-13 weeks Kawamura A et al. (2021)
Neuroanatomy / Ultrastructure / Cytoarchitecture Cerebellar morphology No change Immunostaining 10 weeks Kawamura A et al. (2021)
Neuroanatomy / Ultrastructure / Cytoarchitecture Cerebellar morphology No change Measurement of tissue weight 9-13 weeks Kawamura A et al. (2021)
Neuroanatomy / Ultrastructure / Cytoarchitecture Cerebellar morphology No change Histology 10 weeks Kawamura A et al. (2021)
Repetitive behavior Repetitive digging No change Marble-burying test 8-10 weeks Kawamura A et al. (2021)
Social behavior Social memory No change Three-chamber social approach test 8-10 weeks Kawamura A et al. (2021)
Social behavior Social interaction No change Reciprocal social interaction test 8-10 weeks Kawamura A et al. (2021)
Social behavior Social approach No change Three-chamber social approach test 8-10 weeks Kawamura A et al. (2021)
Developmental profile Size/growth No change Body weight measurement 9-13 weeks Kawamura A et al. (2021)
Emotion Anxiety No change Open field test 8-10 weeks Kawamura A et al. (2021)
Emotion Anxiety No change Elevated plus maze test 8-10 weeks Kawamura A et al. (2021)

M_CHD8_25_CKO_HT

Model Type: Genetic LOF
Model Genotype: Heterozygous

Mutation:

Chd8^flox mice were bred with nkx2.1-cre mice to excise exon 3, resulting in an early frameshift and termination of translation at amino acid 419 (chd8–) to produce a protein lacking all functional domains, in inhibitory interneurons, equivalent to nonsense and frameshift mutations identified in patients.

Allele Type: Conditional knockout
Strain of Origin: C57BL/6J 
Genetic Background: C57BL/6J 

Es cell line: C57BL/6J 
Model Source: 29668850
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Neurophysiology Miniature post synaptic current frequency: inhibitory Increased Whole-cell current clamp P19-P21 Ellingford RA et al. (2021)
Neurophysiology Miniature post synaptic current frequency: excitatory No change Whole-cell current clamp P19-P21 Ellingford RA et al. (2021)
Neurophysiology Miniature post synaptic current amplitude: excitatory No change Whole-cell current clamp P19-P21 Ellingford RA et al. (2021)

M_CHD8_26_CKO_HT

Model Type: Genetic LOF
Model Genotype: Heterozygous

Mutation:

Chd8^flox mice were bred with nex cre mice to excise exon 3, resulting in an early frameshift and termination of translation at amino acid 419 (chd8–) to produce a protein lacking all functional domains in forebrain postmitotic excitatory neurons, equivalent to nonsense and frameshift mutations identified in patients.

Allele Type: Conditional knockout
Strain of Origin: C57BL/6J 
Genetic Background: C57BL/6J 

Es cell line: C57BL/6J 
Model Source: 29668850
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Neurophysiology Miniature post synaptic current frequency: inhibitory Decreased Whole-cell current clamp P19-P21 Ellingford RA et al. (2021)
Neurophysiology Miniature post synaptic current frequency: excitatory Decreased Whole-cell current clamp P19-P21 Ellingford RA et al. (2021)
Neurophysiology Miniature post synaptic current amplitude: excitatory Increased Whole-cell current clamp P19-P21 Ellingford RA et al. (2021)

M_CHD8_2_KO_HM

Model Type: Genetic
Model Genotype: Homozygous

Mutation:

Targeted deletion of exons 11-13 of the Chd8 gene.

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

Es cell line: Not specified
Model Source: Not specified
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Physiological parameters NA Not reported NA NA Katayama Y , et al. (2016)
Circadian sleep/wake cycle NA Not reported NA NA Katayama Y , et al. (2016)
Motor phenotype NA Not reported NA NA Katayama Y , et al. (2016)
Neuroanatomy / ultrastructure / cytoarchitecture NA Not reported NA NA Katayama Y , et al. (2016)
Neurophysiology NA Not reported NA NA Katayama Y , et al. (2016)
Repetitive behavior NA Not reported NA NA Katayama Y , et al. (2016)
Seizure NA Not reported NA NA Katayama Y , et al. (2016)
Sensory NA Not reported NA NA Katayama Y , et al. (2016)
Social behavior NA Not reported NA NA Katayama Y , et al. (2016)
Communications NA Not reported NA NA Katayama Y , et al. (2016)
Developmental profile Size/growth Decreased General observations E8.5-e12.5 Katayama Y , et al. (2016)
Emotion NA Not reported NA NA Katayama Y , et al. (2016)
Immune response NA Not reported NA NA Katayama Y , et al. (2016)
Learning & memory NA Not reported NA NA Katayama Y , et al. (2016)
Maternal behavior NA Not reported NA NA Katayama Y , et al. (2016)
Molecular profile NA Not reported NA NA Katayama Y , et al. (2016)

M_CHD8_2_KO_HT

Model Type: Genetic
Model Genotype: Heterozygous

Mutation:

Targeted deletion of exons 11-13 of the Chd8 gene.

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

Es cell line: Not specified
Model Source: Not specified
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Physiological parameters NA Not reported NA NA Katayama Y , et al. (2016)
Physiological parameters Digestive system function: gastrointestinal motility No change Measurement of gi motility 9 weeks Katayama Y , et al. (2016)
Circadian sleep/wake cycle NA Not reported NA NA Katayama Y , et al. (2016)
Motor phenotype NA Not reported NA NA Katayama Y , et al. (2016)
Neuroanatomy / Ultrastructure / Cytoarchitecture Brain size No change Measurement of tissue weight E14.5 Katayama Y , et al. (2016)
Neuroanatomy / Ultrastructure / Cytoarchitecture Brain size Increased Measurement of tissue weight E18.5; 9 weeks Katayama Y , et al. (2016)
Neuroanatomy / Ultrastructure / Cytoarchitecture Brain size Increased Cranial computerized tomography (ct) scan E18.5; 9 weeks Katayama Y , et al. (2016)
Neurophysiology NA Not reported NA NA Katayama Y , et al. (2016)
Repetitive behavior Perseveration Increased T-maze test 44-48 weeks Katayama Y , et al. (2016)
Seizure NA Not reported NA NA Katayama Y , et al. (2016)
Sensory NA Not reported NA NA Katayama Y , et al. (2016)
Social behavior NA Not reported NA NA Katayama Y , et al. (2016)
Communications NA Not reported NA NA Katayama Y , et al. (2016)
Developmental profile Size/growth No change General observations E8.5-e12.5 Katayama Y , et al. (2016)
Developmental profile Digestive system development Decreased General observations 9 weeks Katayama Y , et al. (2016)
Emotion NA Not reported NA NA Katayama Y , et al. (2016)
Immune response NA Not reported NA NA Katayama Y , et al. (2016)
Learning & memory Spatial reference memory No change T-maze test 44-48 weeks Katayama Y , et al. (2016)
Learning & memory Spatial learning No change Barnes maze test 17-21 weeks Katayama Y , et al. (2016)
Learning & memory Reward reinforced choice behavior No change T-maze test 44-48 weeks Katayama Y , et al. (2016)
Learning & memory Cognitive flexibility No change Barnes maze test 17-21 weeks Katayama Y , et al. (2016)
Maternal behavior NA Not reported NA NA Katayama Y , et al. (2016)
Molecular profile Targeted expression No change Western blot E18.5 and 9 weeks Katayama Y , et al. (2016)
Molecular profile Targeted expression No change Quantitative pcr (qrt-pcr) E18.5 and 9 weeks Katayama Y , et al. (2016)
Molecular profile Targeted expression Increased Quantitative pcr (qrt-pcr) E10.5, e14.5, and 9 weeks Katayama Y , et al. (2016)
Molecular profile Targeted expression Decreased Western blot E10.5, e14.5, e18.5, and 9 weeks Katayama Y , et al. (2016)
Molecular profile Targeted expression Decreased Quantitative pcr (qrt-pcr) E10.5, e14.5, e18.5, and 9 weeks Katayama Y , et al. (2016)

M_CHD8_3_KO_HT

Model Type: Genetic
Model Genotype: Heterozygous; mixed

Mutation:

Targeted deletion of all the exons of the Chd8 gene or Targeted deletion of exons 11-13 of the Chd8 gene.

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

Es cell line: Not specified
Model Source: Not specified
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Physiological parameters NA Not reported NA NA Katayama Y , et al. (2016)
Physiological parameters Core body temperature No change Body temperature measurement Unreported Katayama Y , et al. (2016)
Circadian sleep/wake cycle NA Not reported NA NA Katayama Y , et al. (2016)
Motor phenotype Motor coordination and balance No change Accelerating rotarod test 12-50 weeks Katayama Y , et al. (2016)
Motor phenotype Grip strength No change Wire hang test 12-50 weeks Katayama Y , et al. (2016)
Motor phenotype General locomotor activity No change Open field test 2-16 weeks Katayama Y , et al. (2016)
Neuroanatomy / ultrastructure / cytoarchitecture NA Not reported NA NA Katayama Y , et al. (2016)
Neurophysiology NA Not reported NA NA Katayama Y , et al. (2016)
Repetitive behavior NA Not reported NA NA Katayama Y , et al. (2016)
Seizure NA Not reported NA NA Katayama Y , et al. (2016)
Sensory Startle response: acoustic stimulus Decreased Acoustic startle reflex test 16-19 weeks Katayama Y , et al. (2016)
Sensory Sensorimotor gating No change Prepulse inhibition 16-19 weeks Katayama Y , et al. (2016)
Sensory Sensorimotor gating Decreased Prepulse inhibition 16-19 weeks Katayama Y , et al. (2016)
Sensory Pain or nociception No change Hot plate test 13-16 weeks Katayama Y , et al. (2016)
Social behavior Social memory Decreased Three-chamber social approach test 14-19 weeks Katayama Y , et al. (2016)
Social behavior Social memory Decreased Three-chamber social approach test 47-50 weeks Katayama Y , et al. (2016)
Social behavior Social interaction Decreased Reciprocal social interaction test 3-17 weeks Katayama Y , et al. (2016)
Social behavior Social approach No change Three-chamber social approach test 14-19 weeks Katayama Y , et al. (2016)
Social behavior Nest building behavior No change Nest building assay 17-20 weeks Katayama Y , et al. (2016)
Communications NA Not reported NA NA Katayama Y , et al. (2016)
Developmental profile NA Not reported NA NA Katayama Y , et al. (2016)
Emotion Depression No change Forced swim test 16-20 weeks Katayama Y , et al. (2016)
Emotion Anxiety Increased Light-dark exploration test 12-16 weeks Katayama Y , et al. (2016)
Emotion Anxiety Increased Open field test 12-16 weeks Katayama Y , et al. (2016)
Emotion Anxiety Increased Elevated plus maze test 12-16 weeks Katayama Y , et al. (2016)
Immune response NA Not reported NA NA Katayama Y , et al. (2016)
Learning & memory NA Not reported NA NA Katayama Y , et al. (2016)
Maternal behavior NA Not reported NA NA Katayama Y , et al. (2016)
Molecular profile NA Not reported NA NA Katayama Y , et al. (2016)

M_CHD8_4_KD

Model Type: Genetic
Model Genotype: Wild type

Mutation:

Chd8 was knocked down using shRNAs, via in utero electroporation of the DNA mixture containing shRNAs aginst Chd8 (Sigma; Clone ID: NM_201637.1-1439s1c1 or Clone ID: NM_201637.2-3342s21c1) along with indicators (pCAGIG-Venus and membrane bound-GFP) at E13 embryos.

Allele Type: Knockout
Strain of Origin: Not specified
Genetic Background: Swiss Webster

Es cell line: Not specified
Model Source: Taconic Biosciences
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Physiological parameters NA Not reported NA NA Durak O , et al. (2016)
Circadian sleep/wake cycle NA Not reported NA NA Durak O , et al. (2016)
Motor phenotype NA Not reported NA NA Durak O , et al. (2016)
Neuroanatomy / Ultrastructure / Cytoarchitecture Neuronal differentiation Increased NA E16 Durak O , et al. (2016)
Neuroanatomy / Ultrastructure / Cytoarchitecture Cell proliferation: neural precursors Decreased Immunostaining E16 Durak O , et al. (2016)
Neuroanatomy / Ultrastructure / Cytoarchitecture Brain development Abnormal Confocal microscopy E13-e16 Durak O , et al. (2016)
Neurophysiology Apoptosis: brain cells No change Immunostaining E16 Durak O , et al. (2016)
Repetitive behavior NA Not reported NA NA Durak O , et al. (2016)
Seizure NA Not reported NA NA Durak O , et al. (2016)
Sensory NA Not reported NA NA Durak O , et al. (2016)
Social behavior NA Not reported NA NA Durak O , et al. (2016)
Communications NA Not reported NA NA Durak O , et al. (2016)
Developmental profile NA Not reported NA NA Durak O , et al. (2016)
Emotion NA Not reported NA NA Durak O , et al. (2016)
Immune response NA Not reported NA NA Durak O , et al. (2016)
Learning & memory NA Not reported NA NA Durak O , et al. (2016)
Maternal behavior NA Not reported NA NA Durak O , et al. (2016)
Molecular profile Signaling: wnt pathway Decreased Luciferase reporter assay E15 Durak O , et al. (2016)
Molecular profile Signaling: wnt pathway Decreased Western blot E15 Durak O , et al. (2016)
Molecular profile Signaling: wnt pathway Decreased Rna sequencing E15 Durak O , et al. (2016)
Molecular profile Signaling: wnt pathway Decreased Quantitative pcr (qrt-pcr) E15 Durak O , et al. (2016)
Molecular profile Gene expression Decreased Rna sequencing E15 Durak O , et al. (2016)
Molecular profile Gene expression Decreased Western blot E15 Durak O , et al. (2016)
Molecular profile Gene expression Decreased Quantitative pcr (qrt-pcr) E15 Durak O , et al. (2016)

M_CHD8_4_KD_CTNNB1

Model Type: RESCUE-Genetic
Model Genotype: Wild type

Mutation:

Rescue of phenotypes associated with Chd8 KD was attempted by expressing stablized Ctnnb1, to enhance Wnt signaling. Chd8 was knocked down using shRNAs, via in utero electroporation of the DNA mixture containing shRNAs aginst Chd8 (Sigma; Clone ID: NM_201637.1-1439s1c1 or Clone ID: NM_201637.2-3342s21c1) and the stablized form (S37A) of Ctnnb1 construct along with indicators (pCAGIG-Venus and membrane bound-GFP) at E13 embryos.

Allele Type: Knockout
Strain of Origin: Not specified
Genetic Background: Swiss Webster

Es cell line: Not specified
Model Source: Taconic Biosciences
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Physiological parameters NA Not reported NA NA Durak O , et al. (2016)
Circadian sleep/wake cycle NA Not reported NA NA Durak O , et al. (2016)
Motor phenotype NA Not reported NA NA Durak O , et al. (2016)
Neuroanatomy / Ultrastructure / Cytoarchitecture Neuronal differentiation Restored NA E16 Durak O , et al. (2016)
Neuroanatomy / Ultrastructure / Cytoarchitecture Cell proliferation: neural precursors Restored Immunostaining E16 Durak O , et al. (2016)
Neuroanatomy / Ultrastructure / Cytoarchitecture Brain development Restored Confocal microscopy E13-e16 Durak O , et al. (2016)
Neurophysiology NA Not reported NA NA Durak O , et al. (2016)
Repetitive behavior NA Not reported NA NA Durak O , et al. (2016)
Seizure NA Not reported NA NA Durak O , et al. (2016)
Sensory NA Not reported NA NA Durak O , et al. (2016)
Social behavior NA Not reported NA NA Durak O , et al. (2016)
Communications NA Not reported NA NA Durak O , et al. (2016)
Developmental profile NA Not reported NA NA Durak O , et al. (2016)
Emotion NA Not reported NA NA Durak O , et al. (2016)
Immune response NA Not reported NA NA Durak O , et al. (2016)
Learning & memory NA Not reported NA NA Durak O , et al. (2016)
Maternal behavior NA Not reported NA NA Durak O , et al. (2016)
Molecular profile Signaling: wnt pathway Restored Luciferase reporter assay E15 Durak O , et al. (2016)
Molecular profile Signaling: wnt pathway Restored Western blot E15 Durak O , et al. (2016)
Molecular profile Signaling: wnt pathway Restored Rna sequencing E15 Durak O , et al. (2016)
Molecular profile Signaling: wnt pathway Restored Quantitative pcr (qrt-pcr) E15 Durak O , et al. (2016)
Molecular profile Gene expression Restored Rna sequencing E15 Durak O , et al. (2016)
Molecular profile Gene expression Restored Western blot E15 Durak O , et al. (2016)
Molecular profile Gene expression Restored Quantitative pcr (qrt-pcr) E15 Durak O , et al. (2016)

M_CHD8_4_KD_HCHD8

Model Type: RESCUE-Genetic
Model Genotype: Wild type

Mutation:

Human Chd8 was used to rescue Chd8 KD in mice. Chd8 was knocked down using shRNAs, via in utero electroporation of the DNA mixture containing shRNAs aginst Chd8 (Sigma; Clone ID: NM_201637.1-1439s1c1 or Clone ID: NM_201637.2-3342s21c1) and the full-length human CHD8 construct along with indicators (pCAGIG-Venus and membrane bound-GFP) at E13 embryos.

Allele Type: Knockout
Strain of Origin: Not specified
Genetic Background: Swiss Webster

Es cell line: Not specified
Model Source: Taconic Biosciences
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Physiological parameters NA Not reported NA NA Durak O , et al. (2016)
Circadian sleep/wake cycle NA Not reported NA NA Durak O , et al. (2016)
Motor phenotype NA Not reported NA NA Durak O , et al. (2016)
Neuroanatomy / Ultrastructure / Cytoarchitecture Neuronal differentiation Restored NA E16 Durak O , et al. (2016)
Neuroanatomy / Ultrastructure / Cytoarchitecture Cell proliferation: neural precursors Restored Immunostaining E16 Durak O , et al. (2016)
Neuroanatomy / Ultrastructure / Cytoarchitecture Brain development Restored Confocal microscopy E13-e16 Durak O , et al. (2016)
Neurophysiology NA Not reported NA NA Durak O , et al. (2016)
Repetitive behavior NA Not reported NA NA Durak O , et al. (2016)
Seizure NA Not reported NA NA Durak O , et al. (2016)
Sensory NA Not reported NA NA Durak O , et al. (2016)
Social behavior NA Not reported NA NA Durak O , et al. (2016)
Communications NA Not reported NA NA Durak O , et al. (2016)
Developmental profile NA Not reported NA NA Durak O , et al. (2016)
Emotion NA Not reported NA NA Durak O , et al. (2016)
Immune response NA Not reported NA NA Durak O , et al. (2016)
Learning & memory NA Not reported NA NA Durak O , et al. (2016)
Maternal behavior NA Not reported NA NA Durak O , et al. (2016)
Molecular profile NA Not reported NA NA Durak O , et al. (2016)

M_CHD8_5_KD

Model Type: Genetic
Model Genotype: Wild type

Mutation:

Chd8 was knocked down using shRNAs, via in utero electroporation of the DNA mixture containing shRNAs aginst Chd8 (Sigma; Clone ID: NM_201637.1-1439s1c1 or Clone ID: NM_201637.2-3342s21c1) along with indicators (pCAGIG-Venus and membrane bound-GFP) at E15 embryos.

Allele Type: Knockout
Strain of Origin: Not specified
Genetic Background: Swiss Webster

Es cell line: Not specified
Model Source: Taconic Biosciences
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Physiological parameters NA Not reported NA NA Durak O , et al. (2016)
Circadian sleep/wake cycle NA Not reported NA NA Durak O , et al. (2016)
Motor phenotype General locomotor activity No change Open field test 10-13 weeks Durak O , et al. (2016)
Neuroanatomy / Ultrastructure / Cytoarchitecture Dendritic architecture: spine density Decreased Sholl analysis 5 months Durak O , et al. (2016)
Neuroanatomy / Ultrastructure / Cytoarchitecture Dendritic architecture: dendritic tree complexity Decreased Sholl analysis 5 months Durak O , et al. (2016)
Neuroanatomy / Ultrastructure / Cytoarchitecture Brain development Abnormal Confocal microscopy 3 months Durak O , et al. (2016)
Neurophysiology NA Not reported NA NA Durak O , et al. (2016)
Repetitive behavior NA Not reported NA NA Durak O , et al. (2016)
Seizure NA Not reported NA NA Durak O , et al. (2016)
Sensory NA Not reported NA NA Durak O , et al. (2016)
Social behavior Social approach Decreased Three-chamber social approach test 13-16 weeks Durak O , et al. (2016)
Communications NA Not reported NA NA Durak O , et al. (2016)
Developmental profile NA Not reported NA NA Durak O , et al. (2016)
Emotion Anxiety Increased Light-dark exploration test 11-18 weeks Durak O , et al. (2016)
Emotion Anxiety Increased Elevated plus maze test 11-18 weeks Durak O , et al. (2016)
Emotion Anxiety No change Open field test 10-13 weeks Durak O , et al. (2016)
Immune response NA Not reported NA NA Durak O , et al. (2016)
Learning & memory Cued or contextual fear conditioning: context discrimination No change Fear conditioning test 16-19 weeks Durak O , et al. (2016)
Maternal behavior NA Not reported NA NA Durak O , et al. (2016)
Molecular profile NA Not reported NA NA Durak O , et al. (2016)

M_CHD8_5_KD_CTNNB1

Model Type: RESCUE-Genetic
Model Genotype: Wild type

Mutation:

Rescue of phenotypes associated with Chd8 KD was attempted by expressing stablized Ctnnb1, to enhance Wnt signaling. Chd8 was knocked down using shRNAs, via in utero electroporation of the DNA mixture containing shRNAs aginst Chd8 (Sigma; Clone ID: NM_201637.1-1439s1c1 or Clone ID: NM_201637.2-3342s21c1) and the stablized form (S37A) of Ctnnb1 construct along with indicators (pCAGIG-Venus and membrane bound-GFP) at E15 embryos.

Allele Type: Knockout
Strain of Origin: Not specified
Genetic Background: Swiss Webster

Es cell line: Not specified
Model Source: Taconic Biosciences
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Physiological parameters NA Not reported NA NA Durak O , et al. (2016)
Circadian sleep/wake cycle NA Not reported NA NA Durak O , et al. (2016)
Motor phenotype General locomotor activity No adverse effect Open field test 10-13 weeks Durak O , et al. (2016)
Neuroanatomy / Ultrastructure / Cytoarchitecture Dendritic architecture: spine density Ameliorated Sholl analysis 5 months Durak O , et al. (2016)
Neuroanatomy / Ultrastructure / Cytoarchitecture Dendritic architecture: dendritic tree complexity Restored Sholl analysis 5 months Durak O , et al. (2016)
Neurophysiology NA Not reported NA NA Durak O , et al. (2016)
Repetitive behavior NA Not reported NA NA Durak O , et al. (2016)
Seizure NA Not reported NA NA Durak O , et al. (2016)
Sensory NA Not reported NA NA Durak O , et al. (2016)
Social behavior Social approach Restored Three-chamber social approach test 13-16 weeks Durak O , et al. (2016)
Communications NA Not reported NA NA Durak O , et al. (2016)
Developmental profile NA Not reported NA NA Durak O , et al. (2016)
Emotion Anxiety Restored Light-dark exploration test 11-18 weeks Durak O , et al. (2016)
Emotion Anxiety Restored Elevated plus maze test 11-18 weeks Durak O , et al. (2016)
Emotion Anxiety No adverse effect Open field test 10-13 weeks Durak O , et al. (2016)
Immune response NA Not reported NA NA Durak O , et al. (2016)
Learning & memory NA Not reported NA NA Durak O , et al. (2016)
Maternal behavior NA Not reported NA NA Durak O , et al. (2016)
Molecular profile NA Not reported NA NA Durak O , et al. (2016)

M_CHD8_6_KO_HT

Model Type: Genetic
Model Genotype: Heterozygous

Mutation:

Mouse model with a Cas9 mediated heterozygous germline frameshift deletion of 7 nucleotides in exon 1.

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

Es cell line: -
Model Source: -
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Physiological parameters Reproductive function No change General observations Adult Platt RJ , et al. (2017)
Physiological parameters NA Not reported NA NA Platt RJ , et al. (2017)
Circadian sleep/wake cycle NA Not reported NA NA Platt RJ , et al. (2017)
Motor phenotype Motor coordination and balance Increased Accelerating rotarod test 10 weeks Platt RJ , et al. (2017)
Motor phenotype General locomotor activity: ambulatory activity Decreased Three-chamber social approach test 10 weeks Platt RJ , et al. (2017)
Motor phenotype General locomotor activity: ambulatory activity Decreased Open field test 10 weeks Platt RJ , et al. (2017)
Neuroanatomy / Ultrastructure / Cytoarchitecture Somatosensory cortical map architecture No change Immunohistochemistry E15.5 Platt RJ , et al. (2017)
Neuroanatomy / Ultrastructure / Cytoarchitecture Neuronal specification No change NA E15.5 Platt RJ , et al. (2017)
Neuroanatomy / Ultrastructure / Cytoarchitecture Neuronal number: interneurons No change Immunohistochemistry E15.5 Platt RJ , et al. (2017)
Neuroanatomy / Ultrastructure / Cytoarchitecture Cortical lamination No change Immunohistochemistry E15.5 Platt RJ , et al. (2017)
Neuroanatomy / Ultrastructure / Cytoarchitecture Cell proliferation: neural precursors No change Immunohistochemistry E15.5 Platt RJ , et al. (2017)
Neuroanatomy / Ultrastructure / Cytoarchitecture Brain size Increased Measurement of tissue weight 10 weeks Platt RJ , et al. (2017)
Neuroanatomy / Ultrastructure / Cytoarchitecture Brain development Abnormal Rna sequencing 10 weeks Platt RJ , et al. (2017)
Neurophysiology Spontaneous post synaptic event frequency: excitatory currents Increased Whole-cell patch clamp 6-8 weeks Platt RJ , et al. (2017)
Neurophysiology Spontaneous post synaptic event amplitude: excitatory currents Increased Whole-cell patch clamp 6-8 weeks Platt RJ , et al. (2017)
Neurophysiology Presynaptic function: paired-pulse facilitation No change Whole-cell patch clamp 6-8 weeks Platt RJ , et al. (2017)
Neurophysiology Miniature post synaptic current frequency: inhibitory No change Whole-cell patch clamp 6-8 weeks Platt RJ , et al. (2017)
Neurophysiology Miniature post synaptic current frequency: excitatory No change Whole-cell patch clamp 6-8 weeks Platt RJ , et al. (2017)
Neurophysiology Miniature post synaptic current amplitude: inhibitory Decreased Whole-cell patch clamp 6-8 weeks Platt RJ , et al. (2017)
Neurophysiology Miniature post synaptic current amplitude: excitatory No change Whole-cell patch clamp 6-8 weeks Platt RJ , et al. (2017)
Repetitive behavior Self grooming: perseveration No change Grooming behavior assessments 10 weeks Platt RJ , et al. (2017)
Repetitive behavior Repetitive digging No change Marble-burying test 10 weeks Platt RJ , et al. (2017)
Repetitive behavior Perseveration Increased Accelerating rotarod test 10-14 weeks Platt RJ , et al. (2017)
Seizure NA Not reported NA NA Platt RJ , et al. (2017)
Sensory NA Not reported NA NA Platt RJ , et al. (2017)
Social behavior Social memory Decreased Three-chamber social approach test 10 weeks Platt RJ , et al. (2017)
Social behavior Social approach No change Three-chamber social approach test 10 weeks Platt RJ , et al. (2017)
Social behavior Juvenile play Increased Reciprocal social interaction test 3.3-3.6weeks Platt RJ , et al. (2017)
Communications NA Not reported NA NA Platt RJ , et al. (2017)
Developmental profile Skeletal development: craniofacial Increased Cranial measurements 10 weeks Platt RJ , et al. (2017)
Developmental profile Size/growth Decreased Body weight measurement 10 weeks Platt RJ , et al. (2017)
Developmental profile Mortality/lethality No change Survival analysis P0 Platt RJ , et al. (2017)
Emotion Exploratory activity: habituation No change Three-chamber social approach test 10 weeks Platt RJ , et al. (2017)
Emotion Anxiety Increased Open field test 10-14 weeks Platt RJ , et al. (2017)
Emotion Anxiety Increased Light-dark exploration test 10-14 weeks Platt RJ , et al. (2017)
Immune response NA Not reported NA NA Platt RJ , et al. (2017)
Learning & memory Cued or contextual fear conditioning: memory of cue No change Fear conditioning test 10 weeks Platt RJ , et al. (2017)
Learning & memory Cued or contextual fear conditioning: memory of context No change Fear conditioning test 10 weeks Platt RJ , et al. (2017)
Maternal behavior NA Not reported NA NA Platt RJ , et al. (2017)
Molecular profile Targeted expression Decreased Western blot 10 weeks Platt RJ , et al. (2017)
Molecular profile Targeted expression Decreased Immunohistochemistry 10 weeks Platt RJ , et al. (2017)
Molecular profile Signaling: wnt pathway Increased Rna sequencing 10 weeks Platt RJ , et al. (2017)
Molecular profile Protein-dna complex assembly No change Chromatin immunoprecipitation sequencing (chip-seq) 10 weeks Platt RJ , et al. (2017)
Molecular profile Gene expression Abnormal Rna sequencing 10 weeks Platt RJ , et al. (2017)
Molecular profile Chromatin modification Abnormal Rna sequencing 10 weeks Platt RJ , et al. (2017)
Molecular profile Cell adhesion Abnormal Rna sequencing 10 weeks Platt RJ , et al. (2017)

M_CHD8_7_KO_HM

Model Type: Genetic
Model Genotype: Homozygous

Mutation:

Mouse model with a Cas9 mediated homozygous germline frameshift deletion of 7 nucleotides in exon 1.

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

Es cell line: -
Model Source: -
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Physiological parameters NA Not reported NA NA Platt RJ , et al. (2017)
Circadian sleep/wake cycle NA Not reported NA NA Platt RJ , et al. (2017)
Motor phenotype NA Not reported NA NA Platt RJ , et al. (2017)
Neuroanatomy / ultrastructure / cytoarchitecture NA Not reported NA NA Platt RJ , et al. (2017)
Neurophysiology NA Not reported NA NA Platt RJ , et al. (2017)
Repetitive behavior NA Not reported NA NA Platt RJ , et al. (2017)
Seizure NA Not reported NA NA Platt RJ , et al. (2017)
Sensory NA Not reported NA NA Platt RJ , et al. (2017)
Social behavior NA Not reported NA NA Platt RJ , et al. (2017)
Communications NA Not reported NA NA Platt RJ , et al. (2017)
Developmental profile Mortality/lethality Increased Survival analysis P0 Platt RJ , et al. (2017)
Emotion NA Not reported NA NA Platt RJ , et al. (2017)
Immune response NA Not reported NA NA Platt RJ , et al. (2017)
Learning & memory NA Not reported NA NA Platt RJ , et al. (2017)
Maternal behavior NA Not reported NA NA Platt RJ , et al. (2017)
Molecular profile NA Not reported NA NA Platt RJ , et al. (2017)

M_CHD8_8_CKO_MIXED_NAC

Model Type: Genetic
Model Genotype: Other

Mutation:

Conditional ablation of Chd8 in nucleus accumbens using AAV vectors containing targeting sgRNA (CRISPR) injected into the Nac, leading to cells with monoallelic and biallelic mutations in Chd8

Allele Type: Conditional loss-of-function
Strain of Origin: C57BL/6
Genetic Background: -

Es cell line: -
Model Source: -
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Physiological parameters NA Not reported NA NA Platt RJ , et al. (2017)
Circadian sleep/wake cycle NA Not reported NA NA Platt RJ , et al. (2017)
Motor phenotype General locomotor activity: ambulatory activity No change Three-chamber social approach test Adult Platt RJ , et al. (2017)
Motor phenotype General locomotor activity: ambulatory activity No change Open field test Adult Platt RJ , et al. (2017)
Neuroanatomy / ultrastructure / cytoarchitecture NA Not reported NA NA Platt RJ , et al. (2017)
Neurophysiology NA Not reported NA NA Platt RJ , et al. (2017)
Repetitive behavior Perseveration Increased Accelerating rotarod test Adult Platt RJ , et al. (2017)
Seizure NA Not reported NA NA Platt RJ , et al. (2017)
Sensory NA Not reported NA NA Platt RJ , et al. (2017)
Social behavior NA Not reported NA NA Platt RJ , et al. (2017)
Communications NA Not reported NA NA Platt RJ , et al. (2017)
Developmental profile NA Not reported NA NA Platt RJ , et al. (2017)
Emotion Anxiety No change Open field test Adult Platt RJ , et al. (2017)
Immune response NA Not reported NA NA Platt RJ , et al. (2017)
Learning & memory NA Not reported NA NA Platt RJ , et al. (2017)
Maternal behavior NA Not reported NA NA Platt RJ , et al. (2017)
Molecular profile NA Not reported NA NA Platt RJ , et al. (2017)

M_CHD8_9_CKO_MIXED_DS

Model Type: Genetic
Model Genotype: Other

Mutation:

Conditional ablation of Chd8 in dorsal striatum using AAV vectors containing targeting sgRNA (CRISPR) injected into the DS, leading to cells with monoallelic and biallelic mutations in Chd8

Allele Type: Conditional loss-of-function
Strain of Origin: C57BL/6
Genetic Background: -

Es cell line: -
Model Source: -
Phenotypic Profile
Category Entity Value Change Experimental Paradigm Age at Testing Author, Year
Physiological parameters NA Not reported NA NA Platt RJ , et al. (2017)
Circadian sleep/wake cycle NA Not reported NA NA Platt RJ , et al. (2017)
Motor phenotype General locomotor activity: ambulatory activity No change Open field test Adult Platt RJ , et al. (2017)
Neuroanatomy / ultrastructure / cytoarchitecture NA Not reported NA NA Platt RJ , et al. (2017)
Neurophysiology NA Not reported NA NA Platt RJ , et al. (2017)
Repetitive behavior NA Not reported NA NA Platt RJ , et al. (2017)
Seizure NA Not reported NA NA Platt RJ , et al. (2017)
Sensory NA Not reported NA NA Platt RJ , et al. (2017)
Social behavior NA Not reported NA NA Platt RJ , et al. (2017)
Communications NA Not reported NA NA Platt RJ , et al. (2017)
Developmental profile NA Not reported NA NA Platt RJ , et al. (2017)
Emotion Anxiety No change Open field test Adult Platt RJ , et al. (2017)
Immune response NA Not reported NA NA Platt RJ , et al. (2017)
Learning & memory Procedural learning No change Accelerating rotarod test Adult Platt RJ , et al. (2017)
Maternal behavior NA Not reported NA NA Platt RJ , et al. (2017)
Molecular profile NA Not reported NA NA Platt RJ , et al. (2017)
Other CHD8 Rescue Models(5 Models)
M_CHD8_1_KO_HT 1 Genetic Pharmaceutical Oxytocin
M_CHD8_4_KD 1 Genetic Genetic stablized Ctnnb1(S37A)
M_CHD8_4_KD 1 Genetic Genetic human CHD8
M_CHD8_5_KD 1 Genetic Genetic stablized Ctnnb1(S37A)
M_CHD8_12_CKO_HM 1 Genetic Pharmaceutical CPI-455
CNVs associated with CHD8(1 Models)
14q11.2 49 Deletion-Duplication 65  /  370
Submit New Gene

Report an Error