Mfn2^em2Gwd
Endonuclease-mediated Allele Detail

Summary

• Symbol: Mfn2^em2Gwd
• Name: mitofusin 2; endonuclease-mediated mutation 2, Gerald W Dorn
• MGI ID: MGI:7563989
• Synonyms: Mfn2^T105M
• Gene: Mfn2 Location: Chr4:147958056-147989161 bp, - strand Genetic Position: Chr4, 78.56 cM
• Alliance: Mfn2^em2Gwd 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 a C to T change resulting in a threonine to methionine substitution at amino acid 105 (p.T105M) in exon 6. Two synonymous mutations, p.S106 (AGC to TCA) and p.S110 (AGC to TCG) were 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)