Myh6^tm1.1Jpsc
Targeted Allele Detail

Summary

• Symbol: Myh6^tm1.1Jpsc
• Name: myosin, heavy polypeptide 6, cardiac muscle, alpha; targeted mutation 1.1, Joachim P Schmitt
• MGI ID: MGI:6356699
• Synonyms: VM
• Gene: Myh6 Location: Chr14:55179378-55204384 bp, - strand Genetic Position: Chr14, 28.01 cM
• Alliance: Myh6^tm1.1Jpsc page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:247162
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129/SvEv

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: Exon 16 was replaced with one containing an amino acid substitution of valine with methionine at position 606 (V606M). A loxP flanked neomycin-resistance gene was inserted upstream of exon 16 and was removed by cre-mediated recombination. (J:247162)

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:247162 Blankenburg R, et al., beta-Myosin heavy chain variant Val606Met causes very mild hypertrophic cardiomyopathy in mice, but exacerbates HCM phenotypes in mice carrying other HCM mutations. Circ Res. 2014 Jul 07;115(2):227-37
• All: 1 reference(s)