Mmuttm1Pai
Targeted Allele Detail
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| Symbol: |
Mmuttm1Pai |
| Name: |
methylmalonyl-Coenzyme A mutase; targeted mutation 1, Panayiotis A Ioannou |
| MGI ID: |
MGI:3026839 |
| Synonyms: |
mut- |
| Gene: |
Mmut Location: Chr17:41245576-41272879 bp, + strand Genetic Position: Chr17, 19.55 cM, cytoband C-D
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| Alliance: |
Mmuttm1Pai page
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| Allele Type: |
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Targeted (Null/knockout) |
| Mutations: |
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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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View phenotypes and curated references for all genotypes (concatenated display).
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| 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
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| Carrying any Mmut Mutation: |
34 strains or lines available
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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 |
| All: |
6 reference(s) |
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Analysis Tools
