Myh6^{em1(MYH7*R403Q)Eno}
Endonuclease-mediated Allele Detail

Summary

• Symbol: Myh6^{em1(MYH7*R403Q)Eno}
• Name: myosin, heavy polypeptide 6, cardiac muscle, alpha; endonuclease-mediated mutation 1, Eric N Olson
• MGI ID: MGI:8210452
• Synonyms: Myh6^h403
• Gene: Myh6 Location: Chr14:55179378-55204384 bp, - strand Genetic Position: Chr14, 28.01 cM
• Alliance: Myh6^{em1(MYH7*R403Q)Eno} page

Mutation origin

• Strain of Origin: Not Applicable

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutations: Insertion, Intragenic deletion
• Mutation details: CRISPR/Cas9 technology replaced part of the mouse Myh6 exon 13 with human MYH7 sequence containing an arginine to glutamine substitution at amino acid 403 (p.R403Q; c.1208G>A) which is a dominant-negative pathogenic variant found in individuals with hypertrophic cardiomyopathy. (J:362301)

Disease models

Expression

In Structures Affected by this Mutation:

2 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: 205 strains or lines available

References

• Original: J:362301 Chai AC, et al., Base editing correction of hypertrophic cardiomyopathy in human cardiomyocytes and humanized mice. Nat Med. 2023 Feb;29(2):401-411
• All: 1 reference(s)