Genetic Animal Models / CHD8

CHD8 chromodomain helicase DNA binding protein 8

Model Species
Mus musculus
Gene Aliases
5830451P18Rik, AU015341, Duplin, HELSNF1, mKIAA1564
Reports
8
Associated Human Genes
CHD8
Models / Rescue Models
22 / 4
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 (8 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 Primary CHD8 haploinsufficiency results in autistic-like phenotypes in mice. Katayama Y , et al. (2016)
3 Additional Chd8 mediates cortical neurogenesis via transcriptional regulation of cell cycle and Wnt signaling. Durak O , et al. (2016)
4 Additional Chd8 Mutation Leads to Autistic-like Behaviors and Impaired Striatal Circuits. Platt RJ , et al. (2017)
5 Additional Germline Chd8 haploinsufficiency alters brain development in mouse. Gompers AL , et al. (2017)
6 Additional Altered Neocortical Gene Expression, Brain Overgrowth and Functional Over-Connectivity in Chd8 Haploinsufficient Mice. Suetterlin P , et al. (2018)
7 Additional Dual Requirement of CHD8 for Chromatin Landscape Establishment and Histone Methyltransferase Recruitment to Promote CNS Myelination and Repair. Zhao C , et al. (2018)
8 Additional Sexually dimorphic behavior, neuronal activity, and gene expression in Chd8-mutant mice. Jung H , et al. (2018)
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)
Category - Not Reported - - Gompers AL , et al. (2017)
Circadian sleep/wake cycle - Not Reported - - Gompers AL , et al. (2017)
Communications Ultrasonic vocalization: Interaction induced: opposite sex stimulus No Change Reciprocal social interaction test; Monitoring ultrasonic vocalizations 2-4 months Gompers AL , et al. (2017)
Developmental profile Size/growth No Change General observations; 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 - Not Reported - - Gompers AL , et al. (2017)
Homeostasis - Not Reported - - Gompers AL , et al. (2017)
Immune response - Not Reported - - 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: cued 2-4 months Gompers AL , et al. (2017)
Learning & memory Cued or contextual fear conditioning: Memory of context Decreased Fear conditioning test: contextual 2-4 months Gompers AL , et al. (2017)
Maternal behavior - Not Reported - - Gompers AL , et al. (2017)
Molecular profile Targeted protein expression Decreased Quantitative PCR (qRT-PCR); 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)
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; EdU incorporation; Immunohistochemistry 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 - Not Reported - - Gompers AL , et al. (2017)
Sensory - Not Reported - - Gompers AL , et al. (2017)
Social behavior Social interaction: opposite sex No Change Reciprocal social interaction test: female induced 2-4 months Gompers AL , et al. (2017)
Social behavior Social approach No Change Three-chamber social approach test: sociability 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
Circadian sleep/wake cycle - Not Reported - - 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)
Homeostasis - Not Reported - - Suetterlin P , et al. (2018)
Immune response - Not Reported - - 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 - Not Reported - - Suetterlin P , et al. (2018)
Molecular profile Targeted protein 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)
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: Home cage behavior 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 Hippocampal morphology Increased Magnetic resonance imaging (MRI): high-resolution Adult Suetterlin P , et al. (2018)
Neuroanatomy / Ultrastructure / Cytoarchitecture Cortical thickness Increased Magnetic resonance imaging (MRI): high-resolution Adult Suetterlin P , et al. (2018)
Neuroanatomy / Ultrastructure / Cytoarchitecture Cerebellar morphology Increased Magnetic resonance imaging (MRI): high-resolution Adult Suetterlin P , et al. (2018)
Neuroanatomy / Ultrastructure / Cytoarchitecture Cell proliferation: neural precursors No Change Immunohistochemistry: pHistone-H3 E12.5, E16.5, P0 Suetterlin P , et al. (2018)
Neuroanatomy / Ultrastructure / Cytoarchitecture Brain size Increased Magnetic resonance imaging (MRI): high-resolution 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 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 - Not Reported - - 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: sociability Adult Suetterlin P , et al. (2018)
Social behavior Social approach Increased Olfactory habituation-dishabituation test Adult Suetterlin P , et al. (2018)

M_CHD8_12_CKO_HM

Model Type: Genetic
Model Genotype: Homozygous

Mutation:

Conditional knockout mice with selective ablation of Chd8 in the oligodendrocyte lineage were generated by crossing Olig1-Cre mice with mice harboring a floxed exon 4 generated using the CRISPR-Cas9 method, to cause premature termination of Chd8 after Cre recombination. Olig1-Cre recombination commences in primitive OPCs prior to PDGFRa+ OPCs. CRISPR-Cas9 system was used to generate CHD8-floxed mice.

Allele Type: Conditional knockout
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 Apoptosis No Change Immunohistochemistry P1, P7 Zhao C , et al. (2018)
Circadian sleep/wake cycle - Not Reported - - Zhao C , et al. (2018)
Communications - Not Reported - - Zhao C , et al. (2018)
Developmental profile Mortality/lethality Increased General observations 3 weeks Zhao C , et al. (2018)
Emotion - Not Reported - - Zhao C , et al. (2018)
Homeostasis - Not Reported - - Zhao C , et al. (2018)
Immune response - Not Reported - - Zhao C , et al. (2018)
Learning & memory - Not Reported - - Zhao C , et al. (2018)
Maternal behavior - Not Reported - - Zhao C , et al. (2018)
Molecular profile Targeted protein expression Decreased Immunohistochemistry: Chd8 P14 Zhao C , et al. (2018)
Molecular profile Targeted protein expression No Change Immunohistochemistry: GFAP, NeuN, Iba1, Chd8 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: BrdU, Olig2 P1 Zhao C , et al. (2018)
Molecular profile Cell proliferation Decreased Immunohistochemistry: Ki67, Olig2 P1 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 and specification in the brain No Change Immunohistochemistry: GFAP, NeuN, Iba1 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: CC3, Olig2 Adult Zhao C , et al. (2018)
Repetitive behavior - Not Reported - - Zhao C , et al. (2018)
Seizure Seizures Increased General observations 2 weeks, 2.5 weeks Zhao C , et al. (2018)
Sensory - Not Reported - - Zhao C , et al. (2018)
Social behavior - Not Reported - - 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 knockout
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
Circadian sleep/wake cycle - Not Reported - - Zhao C , et al. (2018)
Communications - Not Reported - - Zhao C , et al. (2018)
Developmental profile - Not Reported - - Zhao C , et al. (2018)
Emotion - Not Reported - - Zhao C , et al. (2018)
Homeostasis - Not Reported - - Zhao C , et al. (2018)
Immune response - Not Reported - - Zhao C , et al. (2018)
Learning & memory - Not Reported - - Zhao C , et al. (2018)
Maternal behavior - Not Reported - - 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: CC1 P14 Zhao C , et al. (2018)
Motor phenotype - Not Reported - - Zhao C , et al. (2018)
Neuroanatomy / Ultrastructure / Cytoarchitecture Number of oligodendrocytes Ameliorated Immunohistochemistry: MBP P7 Zhao C , et al. (2018)
Neuroanatomy / Ultrastructure / Cytoarchitecture Myelination Ameliorated Immunohistochemistry: MBP P14 Zhao C , et al. (2018)
Neurophysiology - Not Reported - - Zhao C , et al. (2018)
Repetitive behavior - Not Reported - - Zhao C , et al. (2018)
Seizure - Not Reported - - Zhao C , et al. (2018)
Sensory - Not Reported - - Zhao C , et al. (2018)
Social behavior - Not Reported - - Zhao C , et al. (2018)

M_CHD8_13_CKO_HM

Model Type: Genetic
Model Genotype: Homozygous

Mutation:

OPC-inducible Chd8 mutants (Chd8 OPC-iKO) by breeding Chd8^flox/flox mice with PDGFRa-CreERT mice which carry an OPC-specific tamoxifen-inducible Cre and a Rosa26:ccGFP reporter. Tamoxifen administration in PDGFRa-CreERT;Chd8^flox/flox mutants (Chd8 OPC-iKO) pups from P3 to P7 induced effective depletion of CHD8. CRISPR-Cas9 system was used to generate CHD8-floxed mice.

Allele Type: Conditional knockout
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 Apoptosis Increased Immunohistochemistry: CC3, GFP P14 Zhao C , et al. (2018)
Circadian sleep/wake cycle - Not Reported - - Zhao C , et al. (2018)
Communications - Not Reported - - Zhao C , et al. (2018)
Developmental profile - Not Reported - - Zhao C , et al. (2018)
Emotion - Not Reported - - Zhao C , et al. (2018)
Homeostasis - Not Reported - - Zhao C , et al. (2018)
Immune response - Not Reported - - Zhao C , et al. (2018)
Learning & memory - Not Reported - - Zhao C , et al. (2018)
Maternal behavior - Not Reported - - Zhao C , et al. (2018)
Molecular profile Targeted protein expression Decreased Immunohistochemistry: GFP, CHD8 P14 Zhao C , et al. (2018)
Molecular profile Cell proliferation No Change Immunohistochemistry: Ki67, GFP P14 Zhao C , et al. (2018)
Molecular profile Cell differentiation No Change Immunohistochemistry: PDGFRa P14 Zhao C , et al. (2018)
Molecular profile Cell differentiation Decreased Immunohistochemistry: PDGFRa P14 Zhao C , et al. (2018)
Motor phenotype - Not Reported - - Zhao C , et al. (2018)
Neuroanatomy / Ultrastructure / Cytoarchitecture Number of oligodendrocytes Decreased Immunohistochemistry: CC1 P14 Zhao C , et al. (2018)
Neuroanatomy / Ultrastructure / Cytoarchitecture Number of oligodendrocytes No Change Immunohistochemistry: PDGFRa P14 Zhao C , et al. (2018)
Neuroanatomy / Ultrastructure / Cytoarchitecture Myelination Decreased Immunohistochemistry: MBP P14 Zhao C , et al. (2018)
Neurophysiology - Not Reported - - Zhao C , et al. (2018)
Repetitive behavior - Not Reported - - Zhao C , et al. (2018)
Seizure - Not Reported - - Zhao C , et al. (2018)
Sensory - Not Reported - - Zhao C , et al. (2018)
Social behavior - Not Reported - - Zhao C , et al. (2018)

M_CHD8_14_CKO_HM

Model Type: Genetic
Model Genotype: Homozygous

Mutation:

Mice with deleted Chd8 in developing neurons with synapsin1-Cre. CRISPR-Cas9 system was used to generate CHD8-floxed mice with exon 4 floxed and deleted. Synapsin1 dependent neuron-specific Cre activity commences at the early embryonic stage E12.5.

Allele Type: Conditional knockout
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
Circadian sleep/wake cycle - Not Reported - - Zhao C , et al. (2018)
Communications - Not Reported - - Zhao C , et al. (2018)
Developmental profile - Not Reported - - Zhao C , et al. (2018)
Emotion - Not Reported - - Zhao C , et al. (2018)
Homeostasis - Not Reported - - Zhao C , et al. (2018)
Immune response - Not Reported - - Zhao C , et al. (2018)
Learning & memory - Not Reported - - Zhao C , et al. (2018)
Maternal behavior - Not Reported - - Zhao C , et al. (2018)
Molecular profile - Not Reported - - Zhao C , et al. (2018)
Motor phenotype - Not Reported - - Zhao C , et al. (2018)
Neuroanatomy / Ultrastructure / Cytoarchitecture Number of oligodendrocytes No Change Immunohistochemistry: CC1 P14 Zhao C , et al. (2018)
Neuroanatomy / Ultrastructure / Cytoarchitecture Myelination No Change Immunohistochemistry: MBP P14 Zhao C , et al. (2018)
Neurophysiology - Not Reported - - Zhao C , et al. (2018)
Repetitive behavior - Not Reported - - Zhao C , et al. (2018)
Seizure - Not Reported - - Zhao C , et al. (2018)
Sensory - Not Reported - - Zhao C , et al. (2018)
Social behavior - Not Reported - - Zhao C , et al. (2018)

M_CHD8_15_CKO_HM

Model Type: Genetic
Model Genotype: Homozygous

Mutation:

OPC-inducible Chd8 mutants (Chd8 OPC-iKO) were generated by breeding Chd8^flox/flox mice with PDGFRa-CreERT mice which carry an OPC-specific tamoxifen-inducible Cre and a Rosa26:ccGFP reporter. Tamoxifen administration in 8 week old PDGFRa-CreERT;Chd8^flox/flox mutants (Chd8 OPC-iKO) induced effective depletion of CHD8. CRISPR-Cas9 system was used to generate CHD8-floxed mice.

Allele Type: Conditional knockout
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
Circadian sleep/wake cycle - Not Reported - - Zhao C , et al. (2018)
Communications - Not Reported - - Zhao C , et al. (2018)
Developmental profile - Not Reported - - Zhao C , et al. (2018)
Emotion - Not Reported - - Zhao C , et al. (2018)
Homeostasis - Not Reported - - Zhao C , et al. (2018)
Immune response - Not Reported - - Zhao C , et al. (2018)
Learning & memory - Not Reported - - Zhao C , et al. (2018)
Maternal behavior - Not Reported - - Zhao C , et al. (2018)
Molecular profile Cell proliferation Decreased Immunohistochemistry: Ki67, Olig2 10, 12 weeks Zhao C , et al. (2018)
Motor phenotype - Not Reported - - 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: g ratios 10, 12 weeks Zhao C , et al. (2018)
Neuroanatomy / Ultrastructure / Cytoarchitecture Myelination Decreased In situ hybridization (ISH): MBP, PLP1, PDGFRa 10, 12 weeks Zhao C , et al. (2018)
Neurophysiology - Not Reported - - Zhao C , et al. (2018)
Repetitive behavior - Not Reported - - Zhao C , et al. (2018)
Seizure - Not Reported - - Zhao C , et al. (2018)
Sensory - Not Reported - - Zhao C , et al. (2018)
Social behavior - Not Reported - - 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
Circadian sleep/wake cycle - Not Reported - - 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: bright and dim light, and darkness Adult Jung H , et al. (2018)
Emotion Anxiety No Change Open field test 3.3 weeks Jung H , et al. (2018)
Homeostasis - Not Reported - - Jung H , et al. (2018)
Immune response - Not Reported - - 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: contextual Adult Jung H , et al. (2018)
Learning & memory Cognitive flexibility No Change Morris water maze test Adult Jung H , et al. (2018)
Maternal behavior - Not Reported - - Jung H , et al. (2018)
Molecular profile Targeted protein 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)
Motor phenotype Self grooming: artificial stress evoked Increased Grooming behavior assessments 8-9 weeks Jung H , et al. (2018)
Motor phenotype Motor coordination and balance: Motor learning No Change Accelerating rotarod test Adult Jung H , et al. (2018)
Motor phenotype General locomotor activity: Ambulatory activity Decreased Open field test: bright and dim light, and darkness 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: vGAT 3.3 weeks Jung H , et al. (2018)
Neuroanatomy / Ultrastructure / Cytoarchitecture Post-synaptic density size: excitatory synapses No Change Immunohistochemistry: vGlutT1 3.3 weeks Jung H , et al. (2018)
Neuroanatomy / Ultrastructure / Cytoarchitecture Hippocampal morphology No Change Immunohistochemistry: NeuN, Nissl 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: NeuN, Nissl 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: in vivo single-unit recordings 2-3 months Jung H , et al. (2018)
Neurophysiology Synaptic transmission: inhibitory Increased Whole-cell patch clamp: in vivo single-unit recordings 2-3 months Jung H , et al. (2018)
Neurophysiology Synaptic transmission: excitatory Increased Whole-cell patch clamp: in vivo single-unit recordings 2-3 months Jung H , et al. (2018)
Neurophysiology Synaptic transmission: excitatory No Change Whole-cell patch clamp: in vivo single-unit recordings 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: c-fos under maternal separation conditions P19-20 Jung H , et al. (2018)
Neurophysiology Neuronal activation Decreased Immunohistochemistry: c-fos under maternal separation conditions P19-20 Jung H , et al. (2018)
Neurophysiology Neuronal activation No Change Immunohistochemistry: c-fos under baseline conditions P19-20 Jung H , et al. (2018)
Neurophysiology Neuronal activation No Change Immunohistochemistry: c-fos under maternal separation conditions P19-20 Jung H , et al. (2018)
Neurophysiology Neuronal activation Decreased Immunohistochemistry: c-fos under baseline conditions P19-20 Jung H , et al. (2018)
Neurophysiology Neuronal activation Decreased Immunohistochemistry: c-fos under maternal separation conditions 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 bursting events or spikes Increased Whole-cell patch clamp: in vivo single-unit recordings 2-3 months Jung H , et al. (2018)
Neurophysiology Intrinsic bursting events or spikes Decreased Whole-cell patch clamp: in vivo single-unit recordings 2-3 months Jung H , et al. (2018)
Neurophysiology Action potential properties: amplitude, rate of depolarization and repolarization No Change Whole-cell patch clamp P19-27 Jung H , et al. (2018)
Neurophysiology Action potential firing No Change Whole-cell patch clamp P19-27 Jung H , et al. (2018)
Neurophysiology Action potential firing 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 - Not Reported - - 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: sociability 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)

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
Category - Not Reported - - Nishiyama M , et al. (2009)
Circadian sleep/wake cycle - Not Reported - - Nishiyama M , et al. (2009)
Communications - Not Reported - - 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 - Not Reported - - Nishiyama M , et al. (2009)
Homeostasis - Not Reported - - Nishiyama M , et al. (2009)
Immune response - Not Reported - - Nishiyama M , et al. (2009)
Learning & memory - Not Reported - - Nishiyama M , et al. (2009)
Maternal behavior - Not Reported - - Nishiyama M , et al. (2009)
Molecular profile - Not Reported - - Nishiyama M , et al. (2009)
Motor phenotype - Not Reported - - Nishiyama M , et al. (2009)
Neuroanatomy / Ultrastructure / Cytoarchitecture - Not Reported - - Nishiyama M , et al. (2009)
Neurophysiology - Not Reported - - Nishiyama M , et al. (2009)
Repetitive behavior - Not Reported - - Nishiyama M , et al. (2009)
Seizure - Not Reported - - Nishiyama M , et al. (2009)
Sensory - Not Reported - - Nishiyama M , et al. (2009)
Social behavior - Not Reported - - 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 Digestive system function: gastrointestinal motility No Change Measurement of GI motility 9 weeks Katayama Y , et al. (2016)
Category - Not Reported - - Katayama Y , et al. (2016)
Circadian sleep/wake cycle - Not Reported - - Katayama Y , et al. (2016)
Communications - Not Reported - - Katayama Y , et al. (2016)
Developmental profile Digestive system development Decreased General observations 9 weeks Katayama Y , et al. (2016)
Emotion - Not Reported - - Katayama Y , et al. (2016)
Homeostasis - Not Reported - - Katayama Y , et al. (2016)
Immune response - Not Reported - - Katayama Y , et al. (2016)
Learning & memory - Not Reported - - Katayama Y , et al. (2016)
Maternal behavior - Not Reported - - Katayama Y , et al. (2016)
Molecular profile Targeted protein expression No Change Western blot; Quantitative PCR (qRT-PCR) E10.5 and 9 weeks Katayama Y , et al. (2016)
Molecular profile Targeted protein expression Decreased Western blot; Quantitative PCR (qRT-PCR) E10.5, E14.5, E18.5, and 9 weeks Katayama Y , et al. (2016)
Motor phenotype - Not Reported - - 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; Cranial computerized tomography (CT) scan E18.5; 9 weeks Katayama Y , et al. (2016)
Neurophysiology - Not Reported - - Katayama Y , et al. (2016)
Repetitive behavior - Not Reported - - Katayama Y , et al. (2016)
Seizure - Not Reported - - Katayama Y , et al. (2016)
Sensory - Not Reported - - Katayama Y , et al. (2016)
Social behavior - Not Reported - - Katayama Y , et al. (2016)

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
Category - Not Reported - - Katayama Y , et al. (2016)
Circadian sleep/wake cycle - Not Reported - - Katayama Y , et al. (2016)
Communications - Not Reported - - Katayama Y , et al. (2016)
Developmental profile Size/growth Decreased General observations E8.5-E12.5 Katayama Y , et al. (2016)
Emotion - Not Reported - - Katayama Y , et al. (2016)
Homeostasis - Not Reported - - Katayama Y , et al. (2016)
Immune response - Not Reported - - Katayama Y , et al. (2016)
Learning & memory - Not Reported - - Katayama Y , et al. (2016)
Maternal behavior - Not Reported - - Katayama Y , et al. (2016)
Molecular profile - Not Reported - - Katayama Y , et al. (2016)
Motor phenotype - Not Reported - - Katayama Y , et al. (2016)
Neuroanatomy / Ultrastructure / Cytoarchitecture - Not Reported - - Katayama Y , et al. (2016)
Neurophysiology - Not Reported - - Katayama Y , et al. (2016)
Repetitive behavior - Not Reported - - Katayama Y , et al. (2016)
Seizure - Not Reported - - Katayama Y , et al. (2016)
Sensory - Not Reported - - Katayama Y , et al. (2016)
Social behavior - Not Reported - - 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 Digestive system function: gastrointestinal motility No Change Measurement of GI motility 9 weeks Katayama Y , et al. (2016)
Category - Not Reported - - Katayama Y , et al. (2016)
Circadian sleep/wake cycle - Not Reported - - Katayama Y , et al. (2016)
Communications - Not Reported - - 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 - Not Reported - - Katayama Y , et al. (2016)
Homeostasis - Not Reported - - Katayama Y , et al. (2016)
Immune response - Not Reported - - Katayama Y , et al. (2016)
Learning & memory Spatial reference memory No Change T-maze test: Delay phase between the Learning and Testing phases 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: Learning phase 44-48 weeks Katayama Y , et al. (2016)
Learning & memory Cognitive flexibility No Change Barnes maze test: Reversal phase 17-21 weeks Katayama Y , et al. (2016)
Maternal behavior - Not Reported - - Katayama Y , et al. (2016)
Molecular profile Targeted protein expression No Change Western blot; Quantitative PCR (qRT-PCR) E18.5 and 9 weeks Katayama Y , et al. (2016)
Molecular profile Targeted protein expression Increased Quantitative PCR (qRT-PCR) E10.5, E14.5, and 9 weeks Katayama Y , et al. (2016)
Molecular profile Targeted protein expression Decreased Western blot; Quantitative PCR (qRT-PCR) E10.5, E14.5, E18.5, and 9 weeks Katayama Y , et al. (2016)
Motor phenotype - Not Reported - - 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; Cranial computerized tomography (CT) scan E18.5; 9 weeks Katayama Y , et al. (2016)
Neurophysiology - Not Reported - - Katayama Y , et al. (2016)
Repetitive behavior Perseveration Increased T-maze test: Reversal phase 44-48 weeks Katayama Y , et al. (2016)
Seizure - Not Reported - - Katayama Y , et al. (2016)
Sensory - Not Reported - - Katayama Y , et al. (2016)
Social behavior - Not Reported - - 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 Core body temperature No Change Body temperature measurement Unreported Katayama Y , et al. (2016)
Category - Not Reported - - Katayama Y , et al. (2016)
Circadian sleep/wake cycle - Not Reported - - Katayama Y , et al. (2016)
Communications - Not Reported - - Katayama Y , et al. (2016)
Developmental profile - Not Reported - - 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; Elevated plus maze test; Open field test 12-16 weeks Katayama Y , et al. (2016)
Homeostasis - Not Reported - - Katayama Y , et al. (2016)
Immune response - Not Reported - - Katayama Y , et al. (2016)
Learning & memory - Not Reported - - Katayama Y , et al. (2016)
Maternal behavior - Not Reported - - Katayama Y , et al. (2016)
Molecular profile - Not Reported - - 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 - Not Reported - - Katayama Y , et al. (2016)
Neurophysiology - Not Reported - - Katayama Y , et al. (2016)
Repetitive behavior - Not Reported - - Katayama Y , et al. (2016)
Seizure - Not Reported - - 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: social novelty 14-19 weeks Katayama Y , et al. (2016)
Social behavior Social memory Decreased Three-chamber social approach test: social preference 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: sociability 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)

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
Category - Not Reported - - Durak O , et al. (2016)
Circadian sleep/wake cycle - Not Reported - - Durak O , et al. (2016)
Communications - Not Reported - - Durak O , et al. (2016)
Developmental profile - Not Reported - - Durak O , et al. (2016)
Emotion - Not Reported - - Durak O , et al. (2016)
Homeostasis - Not Reported - - Durak O , et al. (2016)
Immune response - Not Reported - - Durak O , et al. (2016)
Learning & memory - Not Reported - - Durak O , et al. (2016)
Maternal behavior - Not Reported - - Durak O , et al. (2016)
Molecular profile Signaling: Wnt pathway Decreased Luciferase reporter assay; RNA sequencing; Quantitative PCR (qRT-PCR); Western blot E15 Durak O , et al. (2016)
Molecular profile Gene expression Decreased RNA sequencing; Quantitative PCR (qRT-PCR); Western blot E15 Durak O , et al. (2016)
Motor phenotype - Not Reported - - Durak O , et al. (2016)
Neuroanatomy / Ultrastructure / Cytoarchitecture Neuronal differentiation and specification in the brain Increased Immunostaining 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 - Not Reported - - Durak O , et al. (2016)
Seizure - Not Reported - - Durak O , et al. (2016)
Sensory - Not Reported - - Durak O , et al. (2016)
Social behavior - Not Reported - - 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
Category - Not Reported - - Durak O , et al. (2016)
Circadian sleep/wake cycle - Not Reported - - Durak O , et al. (2016)
Communications - Not Reported - - Durak O , et al. (2016)
Developmental profile - Not Reported - - Durak O , et al. (2016)
Emotion - Not Reported - - Durak O , et al. (2016)
Homeostasis - Not Reported - - Durak O , et al. (2016)
Immune response - Not Reported - - Durak O , et al. (2016)
Learning & memory - Not Reported - - Durak O , et al. (2016)
Maternal behavior - Not Reported - - Durak O , et al. (2016)
Molecular profile Signaling: Wnt pathway Restored Luciferase reporter assay; RNA sequencing; Quantitative PCR (qRT-PCR); Western blot E15 Durak O , et al. (2016)
Molecular profile Gene expression Restored RNA sequencing; Quantitative PCR (qRT-PCR); Western blot E15 Durak O , et al. (2016)
Motor phenotype - Not Reported - - Durak O , et al. (2016)
Neuroanatomy / Ultrastructure / Cytoarchitecture Neuronal differentiation and specification in the brain Restored Immunostaining 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 - Not Reported - - Durak O , et al. (2016)
Repetitive behavior - Not Reported - - Durak O , et al. (2016)
Seizure - Not Reported - - Durak O , et al. (2016)
Sensory - Not Reported - - Durak O , et al. (2016)
Social behavior - Not Reported - - 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
Category - Not Reported - - Durak O , et al. (2016)
Circadian sleep/wake cycle - Not Reported - - Durak O , et al. (2016)
Communications - Not Reported - - Durak O , et al. (2016)
Developmental profile - Not Reported - - Durak O , et al. (2016)
Emotion - Not Reported - - Durak O , et al. (2016)
Homeostasis - Not Reported - - Durak O , et al. (2016)
Immune response - Not Reported - - Durak O , et al. (2016)
Learning & memory - Not Reported - - Durak O , et al. (2016)
Maternal behavior - Not Reported - - Durak O , et al. (2016)
Molecular profile - Not Reported - - Durak O , et al. (2016)
Motor phenotype - Not Reported - - Durak O , et al. (2016)
Neuroanatomy / Ultrastructure / Cytoarchitecture Neuronal differentiation and specification in the brain Restored Immunostaining 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 - Not Reported - - Durak O , et al. (2016)
Repetitive behavior - Not Reported - - Durak O , et al. (2016)
Seizure - Not Reported - - Durak O , et al. (2016)
Sensory - Not Reported - - Durak O , et al. (2016)
Social behavior - Not Reported - - 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
Category - Not Reported - - Durak O , et al. (2016)
Circadian sleep/wake cycle - Not Reported - - Durak O , et al. (2016)
Communications - Not Reported - - Durak O , et al. (2016)
Developmental profile - Not Reported - - Durak O , et al. (2016)
Emotion Anxiety Increased Light-dark exploration test; 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)
Homeostasis - Not Reported - - Durak O , et al. (2016)
Immune response - Not Reported - - 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 - Not Reported - - Durak O , et al. (2016)
Molecular profile - Not Reported - - 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: Layer 2/3 5 months Durak O , et al. (2016)
Neuroanatomy / Ultrastructure / Cytoarchitecture Dendritic architecture: dendritic tree complexity Decreased Sholl analysis: Layer 2/3 5 months Durak O , et al. (2016)
Neuroanatomy / Ultrastructure / Cytoarchitecture Brain development Abnormal Confocal microscopy 3 months Durak O , et al. (2016)
Neurophysiology - Not Reported - - Durak O , et al. (2016)
Repetitive behavior - Not Reported - - Durak O , et al. (2016)
Seizure - Not Reported - - Durak O , et al. (2016)
Sensory - Not Reported - - Durak O , et al. (2016)
Social behavior Social approach Decreased Three-chamber social approach test: sociability 13-16 weeks 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
Category - Not Reported - - Durak O , et al. (2016)
Circadian sleep/wake cycle - Not Reported - - Durak O , et al. (2016)
Communications - Not Reported - - Durak O , et al. (2016)
Developmental profile - Not Reported - - Durak O , et al. (2016)
Emotion Anxiety Restored Light-dark exploration test; 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)
Homeostasis - Not Reported - - Durak O , et al. (2016)
Immune response - Not Reported - - Durak O , et al. (2016)
Learning & memory - Not Reported - - Durak O , et al. (2016)
Maternal behavior - Not Reported - - Durak O , et al. (2016)
Molecular profile - Not Reported - - 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: Layer 2/3 5 months Durak O , et al. (2016)
Neuroanatomy / Ultrastructure / Cytoarchitecture Dendritic architecture: dendritic tree complexity Restored Sholl analysis: Layer 2/3 5 months Durak O , et al. (2016)
Neurophysiology - Not Reported - - Durak O , et al. (2016)
Repetitive behavior - Not Reported - - Durak O , et al. (2016)
Seizure - Not Reported - - Durak O , et al. (2016)
Sensory - Not Reported - - Durak O , et al. (2016)
Social behavior Social approach Restored Three-chamber social approach test: sociability 13-16 weeks 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)
Category - Not Reported - - Platt RJ , et al. (2017)
Circadian sleep/wake cycle - Not Reported - - Platt RJ , et al. (2017)
Communications - Not Reported - - 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; Light-dark exploration test 10-14 weeks Platt RJ , et al. (2017)
Homeostasis - Not Reported - - Platt RJ , et al. (2017)
Immune response - Not Reported - - 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 - Not Reported - - Platt RJ , et al. (2017)
Molecular profile Targeted protein expression Decreased Western blot; 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)
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 Open field test; Three-chamber social approach test 10 weeks Platt RJ , et al. (2017)
Neuroanatomy / Ultrastructure / Cytoarchitecture Somatosensory cortical map architecture No Change Immunohistochemistry: Nissl staining E15.5 Platt RJ , et al. (2017)
Neuroanatomy / Ultrastructure / Cytoarchitecture Neuronal number: Interneurons No Change Immunohistochemistry: Parvalbumin E15.5 Platt RJ , et al. (2017)
Neuroanatomy / Ultrastructure / Cytoarchitecture Neuronal differentiation and specification in the brain No Change Immunohistochemistry: Nissl staining, Cux1, Olig2 E15.5 Platt RJ , et al. (2017)
Neuroanatomy / Ultrastructure / Cytoarchitecture Cortical lamination No Change Immunohistochemistry: Nissl staining E15.5 Platt RJ , et al. (2017)
Neuroanatomy / Ultrastructure / Cytoarchitecture Cell proliferation: neural precursors No Change Immunohistochemistry: BrdU 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: medial spiny neurons in the core region of the nucleus accumbens. 6-8 weeks Platt RJ , et al. (2017)
Neurophysiology Spontaneous post synaptic event amplitude: excitatory currents Increased Whole-cell patch clamp: medial spiny neurons in the core region of the nucleus accumbens. 6-8 weeks Platt RJ , et al. (2017)
Neurophysiology Presynaptic function: paired-pulse facilitation No Change Whole-cell patch clamp: medial spiny neurons in the core region of the nucleus accumbens. 6-8 weeks Platt RJ , et al. (2017)
Neurophysiology Miniature post synaptic current frequency: inhibitory No Change Whole-cell patch clamp: medial spiny neurons in the core region of the nucleus accumbens. 6-8 weeks Platt RJ , et al. (2017)
Neurophysiology Miniature post synaptic current frequency: excitatory No Change Whole-cell patch clamp: medial spiny neurons in the core region of the nucleus accumbens. 6-8 weeks Platt RJ , et al. (2017)
Neurophysiology Miniature post synaptic current amplitude: inhibitory Decreased Whole-cell patch clamp: medial spiny neurons in the core region of the nucleus accumbens. 6-8 weeks Platt RJ , et al. (2017)
Neurophysiology Miniature post synaptic current amplitude: excitatory No Change Whole-cell patch clamp: medial spiny neurons in the core region of the nucleus accumbens. 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 - Not Reported - - Platt RJ , et al. (2017)
Sensory - Not Reported - - 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)

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
Category - Not Reported - - Platt RJ , et al. (2017)
Circadian sleep/wake cycle - Not Reported - - Platt RJ , et al. (2017)
Communications - Not Reported - - Platt RJ , et al. (2017)
Developmental profile Mortality/lethality Increased Survival analysis P0 Platt RJ , et al. (2017)
Emotion - Not Reported - - Platt RJ , et al. (2017)
Homeostasis - Not Reported - - Platt RJ , et al. (2017)
Immune response - Not Reported - - Platt RJ , et al. (2017)
Learning & memory - Not Reported - - Platt RJ , et al. (2017)
Maternal behavior - Not Reported - - Platt RJ , et al. (2017)
Molecular profile - Not Reported - - Platt RJ , et al. (2017)
Motor phenotype - Not Reported - - Platt RJ , et al. (2017)
Neuroanatomy / Ultrastructure / Cytoarchitecture - Not Reported - - Platt RJ , et al. (2017)
Neurophysiology - Not Reported - - Platt RJ , et al. (2017)
Repetitive behavior - Not Reported - - Platt RJ , et al. (2017)
Seizure - Not Reported - - Platt RJ , et al. (2017)
Sensory - Not Reported - - Platt RJ , et al. (2017)
Social behavior - Not Reported - - Platt RJ , et al. (2017)

M_CHD8_8_cKO_Adult _Nac_Cas9_KI

Model Type: Genetic
Model Genotype: Other

Mutation:

Adult Cas9 KI mice with mosaic mono-allelic or bi-allelic disruption of CHD8 in the nucleus accumbens.

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
Category - Not Reported - - Platt RJ , et al. (2017)
Circadian sleep/wake cycle - Not Reported - - Platt RJ , et al. (2017)
Communications - Not Reported - - Platt RJ , et al. (2017)
Developmental profile - Not Reported - - Platt RJ , et al. (2017)
Emotion Anxiety No Change Open field test Adult Platt RJ , et al. (2017)
Homeostasis - Not Reported - - Platt RJ , et al. (2017)
Immune response - Not Reported - - Platt RJ , et al. (2017)
Learning & memory - Not Reported - - Platt RJ , et al. (2017)
Maternal behavior - Not Reported - - Platt RJ , et al. (2017)
Molecular profile - Not Reported - - Platt RJ , et al. (2017)
Motor phenotype General locomotor activity: Ambulatory activity No Change Open field test; Three-chamber social approach test Adult Platt RJ , et al. (2017)
Neuroanatomy / Ultrastructure / Cytoarchitecture - Not Reported - - Platt RJ , et al. (2017)
Neurophysiology - Not Reported - - Platt RJ , et al. (2017)
Repetitive behavior Perseveration Increased Accelerating rotarod test Adult Platt RJ , et al. (2017)
Seizure - Not Reported - - Platt RJ , et al. (2017)
Sensory - Not Reported - - Platt RJ , et al. (2017)
Social behavior - Not Reported - - Platt RJ , et al. (2017)

M_CHD8_9_cKO_Adult _DS_Cas9_KI

Model Type: Genetic
Model Genotype: Other

Mutation:

Adult Cas9 KI mice with mosaic mono-allelic or bi-allelic disruption of CHD8 in the dorsal striatum.

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
Category - Not Reported - - Platt RJ , et al. (2017)
Circadian sleep/wake cycle - Not Reported - - Platt RJ , et al. (2017)
Communications - Not Reported - - Platt RJ , et al. (2017)
Developmental profile - Not Reported - - Platt RJ , et al. (2017)
Emotion Anxiety No Change Open field test Adult Platt RJ , et al. (2017)
Homeostasis - Not Reported - - Platt RJ , et al. (2017)
Immune response - Not Reported - - Platt RJ , et al. (2017)
Learning & memory Procedural learning No Change Accelerating rotarod test Adult Platt RJ , et al. (2017)
Maternal behavior - Not Reported - - Platt RJ , et al. (2017)
Molecular profile - Not Reported - - 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 - Not Reported - - Platt RJ , et al. (2017)
Neurophysiology - Not Reported - - Platt RJ , et al. (2017)
Repetitive behavior - Not Reported - - Platt RJ , et al. (2017)
Seizure - Not Reported - - Platt RJ , et al. (2017)
Sensory - Not Reported - - Platt RJ , et al. (2017)
Social behavior - Not Reported - - Platt RJ , et al. (2017)
Other CHD8 Rescue Models(4 Models)
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 43 Deletion-Duplication 59  /  363
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