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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)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Phenotypes
Legend：
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes：
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References Literature
Title
PMID
Journal
Year
IF
