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| Nomenclature |
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Symbol:
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Amacrtm1Jkh
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Name:
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alpha-methylacyl-CoA racemase;
targeted mutation 1, J Kalervo Hiltunen
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MGI ID: |
MGI:3044171 |
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Gene:
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Amacr
Location:
Chr15:10981756-10996624 bp, + strand
Genetic Position: Chr15,
5.39 cM, cytoband B1
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Mutation origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:90370
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Parent Cell Line:
| R1 (ES Cell) |
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Strain of Origin:
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(129X1/SvJ x 129S1/Sv)F1-Kitl+
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Mutation description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutation: | |
Disruption caused by insertion of vector |
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Mutation details: Exons 1-3 were replaced with a neo. Real-time PCR showed lack of transcript in mutant mice. Immunoblotting demonstrated lack of protein in mutant liver and kidney. (J:90370)
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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 Amacr Mutation:
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0 strains or lines available |
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| References |
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Original: |
J:90370
Savolainen K et al.,
"A mouse model for alpha-methylacyl-CoA racemase deficiency: adjustment of bile acid synthesis and intolerance to dietary methyl-branched lipids."
Hum Mol Genet 2004 May 1;13(9):955-65
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All: |
1 reference(s)
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