Rpe65^tm1Lrcb
Targeted Allele Detail

Summary

• Symbol: Rpe65^tm1Lrcb
• Name: retinal pigment epithelium 65; targeted mutation 1, Christian Grimm
• MGI ID: MGI:3771723
• Synonyms: R91W, Rpe65^R91W
• Gene: Rpe65 Location: Chr3:159304812-159330958 bp, + strand Genetic Position: Chr3, 82.52 cM, cytoband H4
• Alliance: Rpe65^tm1Lrcb page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:130076
• Parent Cell Line: TC1/TC-1 (ES Cell)
• Strain of Origin: 129S6/SvEvTac

Mutation description

• Allele Type: Targeted
• Mutation: Insertion
• Mutation details: Two point mutations were introduced into exon 4 at codon 91 (CGA to TGG) to cause an arginine to tryptophan missense mutation (R91W). A floxed neomycin resistance cassette was also introduced into intron 6 for targeting purposes. Founder mice were mated with deleter mice to remove the neomycin cassette, leaving behind a single loxP site. Levels of the mutant protein are reduced by 95% compared to wild-type controls as determined by western blots of retinal extracts. (J:130076)

Disease models

Expression

In Structures Affected by this Mutation:

4 anatomical structure(s)

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 Rpe65 Mutation: 52 strains or lines available

References

• Original: J:130076 Samardzija M, et al., R91W mutation in Rpe65 leads to milder early-onset retinal dystrophy due to the generation of low levels of 11-cis-retinal. Hum Mol Genet. 2008 Jan 15;17(2):281-92
• All: 20 reference(s)