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| Nomenclature |
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Symbol:
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Abcd1tm1Ymd
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Name:
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ATP-binding cassette, sub-family D (ALD), member 1;
targeted mutation 1, Takeshi Yamada
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MGI ID: |
MGI:2429945 |
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Gene:
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Abcd1
Location:
ChrX:73716597-73738534 bp, + strand
Genetic Position: ChrX,
37.39 cM, cytoband B
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:40230
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Parent Cell Line:
| CCE/EK.CCE (ES Cell) |
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Strain of Origin:
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129S/SvEv-Gpi1c
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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: The 3' portion of exon 1 was replaced with a neomycin selection cassette. The deleted region encoded 284 amino acids. No protein was detected by Western blot analysis of homozygous mutant mice. (J:40230)
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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 Abcd1 Mutation:
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6 strains or lines available |
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| References |
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Original: |
J:40230
Kobayashi T et al.,
"Adrenoleukodystrophy protein-deficient mice represent abnormality of very long chain fatty acid metabolism."
Biochem Biophys Res Commun 1997 Mar 27;232(3):631-6
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All: |
1 reference(s)
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Analysis Tools
