Mmut^tm1Pai
Targeted Allele Detail

Summary

• Symbol: Mmut^tm1Pai
• Name: methylmalonyl-Coenzyme A mutase; targeted mutation 1, Panayiotis A Ioannou
• MGI ID: MGI:3026839
• Synonyms: mut^-
• Gene: Mmut Location: Chr17:41245576-41272879 bp, + strand Genetic Position: Chr17, 19.55 cM, cytoband C-D
• Alliance: Mmut^tm1Pai page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:87081
• Parent Cell Line: W9.5/W95 (ES Cell)
• Strain of Origin: 129S1/Sv-Oca2⁺ Tyr⁺ Kitl⁺

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: Exon 3 was replaced with neomycin/kanamycin cassette inserted by homologous recombination. The deleted region encoded residues 126 through 251 which make up a portion of the CoA and cobalamin binding domains. Transcript was undetected in homozygous mutant mice by RT-PCR analysis of hepatic RNA. [14C]propionate incorporation in primary fibroblast cultures from mutant mice revealed that enzyme activity was reduced to ~6% of wild-type levels. (J:87081)

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: 34 strains or lines available

References

• Original: J:87081 Peters H, et al., A knock-out mouse model for methylmalonic aciduria resulting in neonatal lethality. J Biol Chem. 2003 Dec 26;278(52):52909-13
• All: 6 reference(s)