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| Nomenclature |
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Symbol:
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Rs1tm1Sie
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Name:
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retinoschisis (X-linked, juvenile) 1 (human);
targeted mutation 1, Paul A Sieving
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MGI ID: |
MGI:3056058 |
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Synonyms: |
RS-1- |
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Gene:
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Rs1
Location:
ChrX:160768013-160799663 bp, + strand
Genetic Position: ChrX,
73.95 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:93040
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Parent Cell Line:
| Not Specified (ES Cell) |
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Strain of Origin:
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129S/SvEv
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Mutation
description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutations: | |
Insertion, Intragenic deletion |
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Mutation details: A neomycin resistance gene replaced exon 1, including 9 bp upstream of the ATG, and part of intron 1. Western blot of retinas from mutant mice indicated no protein was present. (J:93040)
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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 Rs1 Mutation:
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2 strains or lines available |
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| References |
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Original: |
J:93040
Zeng Y et al.,
"RS-1 Gene Delivery to an Adult Rs1h Knockout Mouse Model Restores ERG b-Wave with Reversal of the Electronegative Waveform of X-Linked Retinoschisis."
Invest Ophthalmol Vis Sci 2004 Sep;45(9):3279-85
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All: |
6 reference(s)
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Analysis Tools
