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Abcg8tm1Elk
Targeted Allele Detail
Nomenclature
Symbol: Abcg8tm1Elk
Name: ATP binding cassette subfamily G member 8; targeted mutation 1, Eric L Klett
MGI ID: MGI:3514037
Synonyms: Abcg8-, Abcg8/sterolin2
Gene: Abcg8  Location: Chr17:84983730-85007761 bp, + strand  Genetic Position: Chr17, 55.02 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:94759
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  129S6/SvEvTac
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsPart of exon 3 through part of exon 4 was replaced by a neomycin resistance cassette resulting in disruption of the ABC Walker A motif. No transcription was detected by Northern blot analysis. (J:94759)
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: 2 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Abcg8 Mutation:  23 strains or lines available
References
Original:  J:94759 Klett EL, et al., A mouse model of sitosterolemia: absence of Abcg8/sterolin-2 results in failure to secrete biliary cholesterol. BMC Med. 2004 Mar 24;2(1):5
All:  13 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
08/03/2022
MGI 6.21
The Jackson Laboratory