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Chd8tm1.1Csbd
Targeted Allele Detail
Nomenclature
Symbol: Chd8tm1.1Csbd
Name: chromodomain helicase DNA binding protein 8; targeted mutation 1.1, Eunjoon Kim
MGI ID: MGI:6390917
Synonyms: Chd8N2373K
Gene: Chd8  Location: Chr14:52435608-52495237 bp, - strand  Genetic Position: Chr14, 26.84 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:267025
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  C57BL/6J
Mutation
description
Allele Type:    Targeted (Humanized sequence)
Mutations:    Insertion, Nucleotide substitutions
 
Mutation detailsAn asparagine to lysine substitution at amino acid 2373 in exon 36 and a Frt-flanked neomycin selection cassette were introduced into the gene via homologous recombination. Flp-mediated recombination removed the selection cassette. This corresponds to the human Asn2371LysfsX2 mutation found in two males with autism. This mutation results in a C-terminally truncated protein. Western blot analysis indicates that protein levels are decreased by about 50% in both male and female brains. (J:267025)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 1 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Chd8 Mutation:  67 strains or lines available
References
Original:  J:267025 Jung H, et al., Sexually dimorphic behavior, neuronal activity, and gene expression in Chd8-mutant mice. Nat Neurosci. 2018 Sep;21(9):1218-1228
All:  1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
10/12/2021
MGI 6.17
The Jackson Laboratory