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| Nomenclature |
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Symbol:
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Rpgrtm1Tili
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Name:
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retinitis pigmentosa GTPase regulator;
targeted mutation 1, Tiansen Li
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MGI ID: |
MGI:2386674 |
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Synonyms: |
RPGR- |
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Gene:
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Rpgr
Location:
ChrX:10073621-10216920 bp, - strand
Genetic Position: ChrX,
4.62 cM
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Light micrographs of retinal sections of wild-type and Rpgrtm1Tili/Rpgrtm1Tili mice.
Show the 2 image(s) involving this allele.
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:61371
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Parent Cell Line:
| J1 (ES Cell) |
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Strain of Origin:
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129S4/SvJae
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Mutation
description |
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Allele
Type: | |
Targeted (Reporter) |
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Mutations: | |
Insertion, Intragenic deletion |
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Mutation details: Part of exon 4 through part of exon 6 was replaced with a promoter-less lacZ-neo cassette via homologous recombination. Northern blot analysis using a full length cDNA probe did not detect gene expression in brains from homozygous mutant animals. RT-PCR analysis also did not detect gene transcripts. Western blot analysis of protein from brain, retina, and testis confirmed the null allele. (J:61371)
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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 Rpgr Mutation:
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1 strain or line available |
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| References |
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Original: |
J:61371
Hong DH et al.,
"A retinitis pigmentosa GTPase regulator (RPGR)-deficient mouse model for X-linked retinitis pigmentosa (RP3)."
Proc Natl Acad Sci U S A 2000 Mar 28;97(7):3649-54
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All: |
5 reference(s)
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Analysis Tools
