Chd8^tm1.1Csbd

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)