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Muttm1Pai
Targeted Allele Detail
Nomenclature
Symbol: Muttm1Pai
Name: methylmalonyl-Coenzyme A mutase; targeted mutation 1, Panayiotis A Ioannou
MGI ID: MGI:3026839
Synonyms: mut-
Gene: Mut  Location: Chr17:40934685-40961989 bp, + strand  Genetic Position: Chr17, 19.55 cM, cytoband C-D
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 detailsExon 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)
Phenotypes
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View phenotypes for all genotypes (concatenated display).
Disease models
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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 Mut Mutation:  1 strain or line 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:  3 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
07/21/2015
MGI 5.22
The Jackson Laboratory