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Abca12tm1Shzu
Targeted Allele Detail
Nomenclature
Symbol: Abca12tm1Shzu
Name: ATP-binding cassette, sub-family A (ABC1), member 12; targeted mutation 1, Hiroshi Shimizu
MGI ID: MGI:3809668
Synonyms: Abca12Lx12
Gene: Abca12  Location: Chr1:71243090-71414910 bp, - strand  Genetic Position: Chr1, 35.81 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:139048
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  129S/SvEv
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsExon 30 was replaced with a neo cassette. The absence of protein expression was confirmed by western blot analysis on keratinocyte extracts. (J:139048)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 8 anatomical structures
Find Mice (IMSR)
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
Carrying any Abca12 Mutation:  1 strain or line available
References
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
All:  4 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
02/11/2020
MGI 6.14
The Jackson Laboratory