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Targeted Allele Detail
Symbol: Rpe65tm1Lrcb
Name: retinal pigment epithelium 65; targeted mutation 1, Christian Grimm
MGI ID: MGI:3771723
Synonyms: R91W, Rpe65R91W
Gene: Rpe65  Location: Chr3:159599175-159625321 bp, + strand  Genetic Position: Chr3, 82.52 cM, cytoband H4
Germline Transmission:  Earliest citation of germline transmission: J:130076
Parent Cell Line:  TC1/TC-1 (ES Cell)
Strain of Origin:  129S6/SvEvTac
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)
View phenotypes for all genotypes (concatenated display).
Disease models
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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
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)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.01
The Jackson Laboratory