About   Help   FAQ
Mmuttm1Cpv
Targeted Allele Detail
Nomenclature
Symbol: Mmuttm1Cpv
Name: methylmalonyl-Coenzyme A mutase; targeted mutation 1, Charles P Venditti
MGI ID: MGI:3840300
Gene: Mmut  Location: Chr17:40934685-40961988 bp, + strand  Genetic Position: Chr17, 19.55 cM, cytoband C-D
Enlarged mitochondria with whorl-like cristae in Mmuttm1Cpv/Mmuttm1Cpv 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 detailsExon 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)
Phenotypes
Loading...
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
Loading...
Expression
In Structures Affected by this Mutation: 12 anatomical structures
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:  2 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:  7 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
03/24/2020
MGI 6.15
The Jackson Laboratory