Mmut^tm1Cpv
Targeted Allele Detail

Summary

• Symbol: Mmut^tm1Cpv
• Name: methylmalonyl-Coenzyme A mutase; targeted mutation 1, Charles P Venditti
• MGI ID: MGI:3840300
• Gene: Mmut Location: Chr17:41245576-41272879 bp, + strand Genetic Position: Chr17, 19.55 cM, cytoband C-D
• Alliance: Mmut^tm1Cpv page

Enlarged mitochondria with whorl-like cristae in Mmut^tm1Cpv/Mmut^tm1Cpv Tg(Alb-Mut)#Cpv/0 mice fed a high-protein diet

Show the 3 phenotype image(s) involving this allele.

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:147338
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: Exon 2 was floxed and exon 3 was replaced with a neo cassette. The absence of protein expression was confirmed by western blot analysis on liver extracts. (J:147338)

Disease models

Expression

In Mice Carrying this Mutation:	1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	11 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:147338 Chandler RJ, et al., Metabolic phenotype of methylmalonic acidemia in mice and humans: the role of skeletal muscle. BMC Med Genet. 2007;8:64
• All: 10 reference(s)