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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: Chr3:159304812-159330958 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
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 3 anatomical structures
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:  32 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:  16 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
05/10/2022
MGI 6.19
The Jackson Laboratory