Gfm1^em2Rmrt
Endonuclease-mediated Allele Detail

Summary

• Symbol: Gfm1^em2Rmrt
• Name: G elongation factor, mitochondrial 1; endonuclease-mediated mutation 2, Ramon Marti
• MGI ID: MGI:7858915
• Synonyms: Gfm1^R671C
• Gene: Gfm1 Location: Chr3:67337448-67382401 bp, + strand Genetic Position: Chr3, 30.96 cM
• Alliance: Gfm1^em2Rmrt page

Mutation origin

• Strain of Origin: C57BL/6NTac

Mutation description

• Allele Type: Endonuclease-mediated (Not Specified)
• Mutation: Nucleotide substitutions
• Mutation details: CRISPR-targeting introduced the mutation responsible for the amino acid substitution of arginine with cysteine at position 671 (Arg671Cys; c.2011_2013delinsTGC, NM_138591.2) (J:361430)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Gfm1 Mutation: 34 strains or lines available

References

• Original: J:361430 Molina-Berenguer M, et al., Dysfunctional mitochondrial translation and combined oxidative phosphorylation deficiency in a mouse model of hepatoencephalopathy due to Gfm1 mutations. FASEB J. 2022 Jan;36(1):e22091
• All: 1 reference(s)