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| Nomenclature |
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Symbol:
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Abca12tm1Shzu
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Name:
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ATP-binding cassette, sub-family A (ABC1), member 12;
targeted mutation 1, Hiroshi Shimizu
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MGI ID: |
MGI:3809668 |
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Gene:
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Abca12
Location:
Chr1:71243090-71414910 bp, - strand
Genetic Position: Chr1,
35.81 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:139048
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Parent Cell Line:
| Not Specified (ES Cell) |
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Strain of Origin:
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129S/SvEv
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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 30 was replaced with a neo cassette. The absence of protein expression was confirmed by western blot analysis on keratinocyte extracts. (J:139048)
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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 Abca12 Mutation:
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3 strains or lines available |
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| References |
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Original: |
J:139048
Yanagi T et al.,
"Harlequin ichthyosis model mouse reveals alveolar collapse and severe fetal skin barrier defects."
Hum Mol Genet 2008 Oct 1;17(19):3075-83
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All: |
3 reference(s)
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Analysis Tools
