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| Nomenclature |
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Symbol:
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Muttm1Pai
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Name:
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methylmalonyl-Coenzyme A mutase;
targeted mutation 1, Panayiotis A Ioannou
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MGI ID: |
MGI:3026839 |
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Synonyms: |
mut- |
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Gene:
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Mut
Location:
Chr17:40934685-40961989 bp, + strand
Genetic Position: Chr17,
19.55 cM, cytoband C-D
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:87081
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Parent Cell Line:
| W9.5/W95 (ES Cell) |
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Strain of Origin:
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129S1/Sv-Oca2+ Tyr+ Kitl+
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Mutation
description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutations: | |
Insertion, Intragenic deletion |
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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)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Mut Mutation:
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1 strain or line available |
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| References |
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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
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All: |
3 reference(s)
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Analysis Tools
