Mmut^tm1.1Mrb
Targeted Allele Detail

Summary

• Symbol: Mmut^tm1.1Mrb
• Name: methylmalonyl-Coenzyme A mutase; targeted mutation 1.1, Matthias R Baumgartner
• MGI ID: MGI:6157363
• Synonyms: Mut^ki
• Gene: Mmut Location: Chr17:41245576-41272879 bp, + strand Genetic Position: Chr17, 19.55 cM, cytoband C-D
• Alliance: Mmut^tm1.1Mrb page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:237040
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Targeted (Hypomorph)
• Mutations: Insertion, Single point mutation
• Mutation details: A targeting vector was designed to replace thymine with adenine at position 2093, resulting in a methionine to lysine mutation at amino acid 698 (M698K) in exon 12, which corresponds to the human M700L missense mutation seen in some methylmalonic aciduria patients. A FRT-flanked neomycin selection cassette was inserted downstream of exon 12 and was removed via FLP-mediated recombination. Western blot analysis indicates significantly reduced level of protein in homozygotes and Mut enzyme activity is greatly decreased. (J:237040)

Disease models

Expression

In Structures Affected by this Mutation:

5 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 Mmut Mutation: 32 strains or lines available

References

• Original: J:237040 Forny P, et al., Novel Mouse Models of Methylmalonic Aciduria Recapitulate Phenotypic Traits with a Genetic Dosage Effect. J Biol Chem. 2016 Sep 23;291(39):20563-73
• All: 4 reference(s)