Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

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: Chr14:55179378-55204384 bp, - strand  Genetic Position: Chr14, 28.01 cM Alliance: Myh6tm1Jse page

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 details: 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)

View phenotypes and curated references for all genotypes (concatenated display).

In Mice Carrying this Mutation:	1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	7 anatomical structure(s)

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:	206 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:	41 reference(s)