Myh6^tm1Jse
Targeted Allele Detail

Summary

• Symbol: Myh6^tm1Jse
• 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: Myh6^tm1Jse page

Myocyte disarray and cardiac fibrosis in Myh6^tm1Jse/Myh6⁺ mice

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

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:32960
• Parent Cell Line: C1 (ES Cell)
• Strain of Origin: 129X1/SvJ

Mutation description

• 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)

Disease models

Expression

In Mice Carrying this Mutation:	1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	6 anatomical structure(s)

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: 206 strains or lines available

References

• 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)