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| Nomenclature |
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Symbol:
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Rpe65tm1Lrcb
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Name:
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retinal pigment epithelium 65;
targeted mutation 1, Christian Grimm
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MGI ID: |
MGI:3771723 |
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Synonyms: |
R91W, Rpe65R91W |
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Gene:
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Rpe65
Location:
Chr3:159599233-159624799 bp, + strand
Genetic Position: Chr3,
82.52 cM, cytoband H4
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:130076
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Parent Cell Line:
| TC1/TC-1 (ES Cell) |
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Strain of Origin:
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129S6/SvEvTac
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Mutation
description |
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Allele
Type: | |
Targeted (knock-in) |
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Mutation: | |
Insertion |
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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)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Rpe65 Mutation:
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4 strains or lines available |
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| References |
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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
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All: |
5 reference(s)
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Analysis Tools
