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Targeted Allele Detail
Symbol: Myh6tm1Jse
Name: myosin, heavy polypeptide 6, cardiac muscle, alpha; targeted mutation 1, Jonathan G Seidman
MGI ID: MGI:2182704
Synonyms: alphaMHC403, MHC403, R403Q
Gene: Myh6  Location: Chr14:54941921-54966927 bp, - strand  Genetic Position: Chr14, 28.01 cM
Myocyte disarray and cardiac fibrosis in Myh6tm1Jse/Myh6+ mice

Show the 1 phenotype image(s) involving this allele.

Germline Transmission:  Earliest citation of germline transmission: J:32960
Parent Cell Line:  C1 (ES Cell)
Strain of Origin:  129X1/SvJ
Allele Type:    Targeted (Humanized sequence)
Mutations:    Insertion, Nucleotide substitutions
Mutation detailsAn 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)
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
In Structures Affected by this Mutation: 8 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 2 strains available      Cell Lines: 0 lines available
Carrying any Myh6 Mutation:  28 strains or lines available
Original:  J:32960 Geisterfer-Lowrance AA, et al., A mouse model of familial hypertrophic cardiomyopathy. Science. 1996 May 3;272(5262):731-4
All:  28 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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MGI 6.14
The Jackson Laboratory