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Abca4tm1Ght
Targeted Allele Detail
Nomenclature
Symbol: Abca4tm1Ght
Name: ATP-binding cassette, sub-family A (ABC1), member 4; targeted mutation 1, Gabriel H Travis
MGI ID: MGI:1857860
Synonyms: abcr-
Gene: Abca4  Location: Chr3:122044443-122180123 bp, + strand  Genetic Position: Chr3, 52.94 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:56317
Parent Cell Line:  J1 (ES Cell)
Strain of Origin:  129S4/SvJae
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsReplacement of a 4 kb genomic fragment containing the promoter and first exon with a neomycin cassette. Immunoblot analysis of retinal homogenates failed to detect any protein in samples derived from homozygous mice. (J:56317)
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: 4 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 3 strains available      Cell Lines: 0 lines available
Carrying any Abca4 Mutation:  50 strains or lines available
References
Original:  J:56317 Weng J, et al., Insights into the function of Rim protein in photoreceptors and etiology of Stargardt's disease from the phenotype in abcr knockout mice. Cell. 1999 Jul 9;98(1):13-23
All:  60 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
05/15/2018
MGI 6.12
The Jackson Laboratory