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| Nomenclature |
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Symbol:
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Abcd2tm1Apuj
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Name:
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ATP-binding cassette, sub-family D (ALD), member 2;
targeted mutation 1, Aurora Pujol
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MGI ID: |
MGI:3612442 |
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Synonyms: |
Abcd2-, abcd2 KO |
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Gene:
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Abcd2
Location:
Chr15:91145884-91191807 bp, - strand
Genetic Position: Chr15,
46.0 cM, cytoband E-F
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:104122
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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: | |
Intragenic deletion |
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Mutation details: Exons 4 through 6 were deleted. Western blot showed a complete lack of protein in all tissues of mutant mice. Quantitative RT-PCR confirmed absence of full-length transcript, although shorter, smir-type and low expressed fragments were detected, consistent with nonsense-mediated mRNA decay process. (J:104122)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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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 Abcd2 Mutation:
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2 strains or lines available |
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| References |
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Original: |
J:104122
Ferrer I et al.,
"Inactivation of the peroxisomal ABCD2 transporter in the mouse leads to late-onset ataxia involving mitochondria, Golgi and endoplasmic reticulum damage."
Hum Mol Genet 2005 Dec 1;14(23):3565-77
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All: |
8 reference(s)
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Analysis Tools
