Myh7^em1Dsr
Endonuclease-mediated Allele Detail

Summary

• Symbol: Myh7^em1Dsr
• Name: myosin, heavy polypeptide 7, cardiac muscle, beta; endonuclease-mediated mutation 1, Deepak Srivastava
• MGI ID: MGI:6360203
• Synonyms: Myh7^L387F
• Gene: Myh7 Location: Chr14:55208141-55232083 bp, - strand Genetic Position: Chr14, 28.01 cM
• Alliance: Myh7^em1Dsr page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Not Specified)
• Mutation: Nucleotide substitutions
• Mutation details: CRISPR/Cas9 technology generated two point mutations, a G to A change, resulting in a leucine to phenylalanine substitution at amino acid 387 and a G to T change, resulting in a PAM site disruption. (J:277399)

Disease models

Expression

In Structures Affected by this Mutation:

1 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 Myh7 Mutation: 95 strains or lines available

References

• Original: J:277399 Gifford CA, et al., Oligogenic inheritance of a human heart disease involving a genetic modifier. Science. 2019 May 31;364(6443):865-870
• All: 1 reference(s)