Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

Symbol:	Abca4tm1Ght
Name:	ATP-binding cassette, sub-family A member 4; targeted mutation 1, Gabriel H Travis
MGI ID:	MGI:1857860
Synonyms:	abcr-
Gene:	Abca4  Location: Chr3:121838092-121973772 bp, + strand  Genetic Position: Chr3, 52.94 cM
Alliance:	Abca4tm1Ght page

Germline Transmission:	Earliest citation of germline transmission: J:56317
Parent Cell Line:	J1 (ES Cell)
Strain of Origin:	129S4/SvJae

Allele Type:    Targeted (Null/knockout) Mutations:    Insertion, Intragenic deletion   Mutation details: Replacement 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)

View phenotypes and curated references for all genotypes (concatenated display).

In Mice Carrying this Mutation:	1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	6 anatomical structure(s)

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:	107 strains or lines available

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:	93 reference(s)