Myh6^tm1Jse

An arginine to glutamine missense mutation at residue 403 of exon 13 (R403Q) was introduced with a neomycin resistance gene and a thymidine kinase gene via homologous recombination. This mutation causes a severe form of familial hypertrophic cardiomyopathy (FHC) in humans. FIAU media was used to select for cells carrying the R403Q mutation without the neomycin and thymidine kinase genes. Homozygous mutant animals were identified by Southern blot and PCR genotype analysis. (J:32960)