Abca4^tm1Ght
Targeted Allele Detail

Summary

• Symbol: Abca4^tm1Ght
• 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: Abca4^tm1Ght page

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 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)

Disease models

Expression

In Mice Carrying this Mutation:	2 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	6 anatomical structure(s)

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: 108 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: 99 reference(s)