Mfn2^em1Dabsa
Endonuclease-mediated Allele Detail

Summary

• Symbol: Mfn2^em1Dabsa
• Name: mitofusin 2; endonuclease-mediated mutation 1, David B Savage
• MGI ID: MGI:8272328
• Synonyms: Mfn2^R707W
• Gene: Mfn2 Location: Chr4:147958056-147989161 bp, - strand Genetic Position: Chr4, 78.56 cM
• Alliance: Mfn2^em1Dabsa page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Nucleotide substitutions
• Mutation details: Arginine codon 707 (CGA) in exon 18 was changed to tryptophan (TGG) (p.R707W) using two sgRNAs and an ssODN template with CRISPR/Cas9 technology. The mutation changes mitochondrial structure and function in fat tissue and is the equivalent of the same human mutation associated with lipodystrophy. (J:376364)

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 Mfn2 Mutation: 27 strains or lines available

References

• Original: J:376364 Mann JP, et al., A mouse model of human mitofusin-2-related lipodystrophy exhibits adipose-specific mitochondrial stress and reduced leptin secretion. Elife. 2023 Feb 1;12
• All: 1 reference(s)