Myh6^tm3.1Jse
Targeted Allele Detail

Summary

• Symbol: Myh6^tm3.1Jse
• 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: Myh6^tm3.1Jse page

Mutation origin

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

Mutation description

• 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)

Disease models

Expression

In Structures Affected by this Mutation:

4 anatomical structure(s)

Find Mice (IMSR)

• 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

References

• 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)