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| Nomenclature |
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Symbol:
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Rs1tm1Bhfw
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Name:
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retinoschisis (X-linked, juvenile) 1 (human);
targeted mutation 1, Bernhard H F Weber
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MGI ID: |
MGI:2179757 |
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Synonyms: |
Rs1h-/Y, Rs1h-/Y |
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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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Macromorphological evaluation of the Rs1tm1Bhfw/Y retina with scanning laser ophthalmoscopy
Show the 3 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:76332
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Parent Cell Line:
| CJ7 (ES Cell) |
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Strain of Origin:
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129S1/Sv-Oca2+ Tyr+ Kitl+
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Mutation
description |
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Allele
Type: | |
Targeted (Reporter) |
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Mutation: | |
Insertion |
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Mutation details: Exon 3 was disrupted by insertion of a lacZ-neo cassette via homologous recombination. Absence of gene expression in eyes of mutant male animals was verified by Northern and Western blot analysis. (J:76332)
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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:76332
Weber BH et al.,
"Inactivation of the murine X-linked juvenile retinoschisis gene, Rs1h, suggests a role of retinoschisin in retinal cell layer organization and synaptic structure."
Proc Natl Acad Sci U S A 2002 Apr 30;99(9):6222-7
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All: |
10 reference(s)
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Analysis Tools
