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

Symbol:	Myh6tm3.1Jse
Name:	myosin, heavy polypeptide 6, cardiac muscle, alpha; targeted mutation 3.1, Jonathan G Seidman
MGI ID:	MGI:4837367
Synonyms:	alpha-MHC719, RW
Gene:	Myh6  Location: Chr14:55179378-55204384 bp, - strand  Genetic Position: Chr14, 28.01 cM
Alliance:	Myh6tm3.1Jse page

Germline Transmission:	Earliest citation of germline transmission: J:165269
Parent Cell Line:	Not Specified (ES Cell)
Strain of Origin:	Not Specified

Allele Type:    Targeted (Humanized sequence) Mutations:    Insertion, Nucleotide substitutions   Mutation details: Exon 19 was replaced with a modified one containing nucleotide substitutions that result the amino acid substitution of arginine with tryphtophan at position 719 (R719W). A floxed neo cassette inserted downstream of exon 19 was removed by cre mediated recombination. (J:165269)

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

In Structures Affected by this Mutation:

4 anatomical structure(s)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Myh6 Mutation:	206 strains or lines available

Original:	J:165269 Teekakirikul P, et al., Cardiac fibrosis in mice with hypertrophic cardiomyopathy is mediated by non-myocyte proliferation and requires Tgf-beta. J Clin Invest. 2010 Oct 1;120(10):3520-9
All:	4 reference(s)