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Mmuttm1.1Mrb
Targeted Allele Detail
Nomenclature
Symbol: Mmuttm1.1Mrb
Name: methylmalonyl-Coenzyme A mutase; targeted mutation 1.1, Matthias R Baumgartner
MGI ID: MGI:6157363
Synonyms: Mutki
Gene: Mmut  Location: Chr17:40934685-40961988 bp, + strand  Genetic Position: Chr17, 19.55 cM, cytoband C-D
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 detailsA 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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 6 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: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:  2 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)
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last database update
05/26/2020
MGI 6.15
The Jackson Laboratory