Mfn2^em3Gwd
Endonuclease-mediated Allele Detail

Summary

• Symbol: Mfn2^em3Gwd
• Name: mitofusin 2; endonuclease-mediated mutation 3, Gerald W Dorn
• MGI ID: MGI:7563991
• Synonyms: Mfn2^M376V
• Gene: Mfn2 Location: Chr4:147958056-147989161 bp, - strand Genetic Position: Chr4, 78.56 cM
• Alliance: Mfn2^em3Gwd page

Mutation origin

• Strain of Origin: Not Specified

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: CRISPR/Cas9 technology generated an A to G change resulting in a methionine to valine substitution at amino acid 376 (p.M376V) in exon 12. A synonymous mutation p.S378 (TCC to TCA) was also introduced to prevent the binding and recutting of the sequence by gRNA. This is a Charcot-Marie-Tooth disease type 2A-associated mutation. (J:342938)

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)