Chd8^tm1.1Csbd
Targeted Allele Detail

Summary

• Symbol: Chd8^tm1.1Csbd
• Name: chromodomain helicase DNA binding protein 8; targeted mutation 1.1, Eunjoon Kim
• MGI ID: MGI:6390917
• Synonyms: Chd8^N2373K
• Gene: Chd8 Location: Chr14:52435608-52495237 bp, - strand Genetic Position: Chr14, 26.84 cM
• Alliance: Chd8^tm1.1Csbd page

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 details: An 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)

Disease models

Expression

In Mice Carrying this Mutation:	3 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	1 anatomical structure(s)

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: 107 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)