Mfn2^em1Gwd
Endonuclease-mediated Allele Detail

Summary

• Symbol: Mfn2^em1Gwd
• Name: mitofusin 2; endonuclease-mediated mutation 1, Gerald W Dorn
• MGI ID: MGI:7563988
• Synonyms: Mfn2^R400Q
• Gene: Mfn2 Location: Chr4:147958056-147989161 bp, - strand Genetic Position: Chr4, 78.56 cM
• Alliance: Mfn2^em1Gwd page

Mutation origin

• Strain of Origin: (C57BL/6J x CBA)F2

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: CRISPR/Cas9 technology generated a G to A change resulting in an arginine to glutamine substitution at amino acid 400 (p.R400Q) in exon 13. This is a rare mutation seen in individuals with cardiomyopathy. (J:342938)

Expression

In Mice Carrying this Mutation:

1 RNA-Seq or microarray experiment(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 Mfn2 Mutation: 27 strains or lines available

References

• Original: J:342938 Franco A, et al., A human mitofusin 2 mutation can cause mitophagic cardiomyopathy. Elife. 2023 Nov 1;12
• All: 1 reference(s)