About   Help   FAQ
Rpe65tm1Lrcb
Targeted Allele Detail
Nomenclature
Symbol: Rpe65tm1Lrcb
Name: retinal pigment epithelium 65; targeted mutation 1, Christian Grimm
MGI ID: MGI:3771723
Synonyms: R91W, Rpe65R91W
Gene: Rpe65  Location: Chr3:159599233-159624799 bp, + strand  Genetic Position: Chr3, 82.52 cM, cytoband H4
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 detailsTwo 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)
Phenotypes
Loading...
View phenotypes for all genotypes (concatenated display).
Disease models
Loading...
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:  5 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:  5 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
08/18/2015
MGI 6.0
The Jackson Laboratory