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Targeted Allele Detail
Symbol: Rs1tm1Bhfw
Name: retinoschisis (X-linked, juvenile) 1 (human); targeted mutation 1, Bernhard H F Weber
MGI ID: MGI:2179757
Synonyms: Rs1h-/Y, Rs1h-/Y
Gene: Rs1  Location: ChrX:160768013-160799663 bp, + strand  Genetic Position: ChrX, 73.95 cM
Macromorphological evaluation of the Rs1tm1Bhfw/Y retina with scanning laser ophthalmoscopy

Show the 3 phenotype image(s) involving this allele.

Germline Transmission:  Earliest citation of germline transmission: J:76332
Parent Cell Line:  CJ7 (ES Cell)
Strain of Origin:  129S1/Sv-Oca2+ Tyr+ Kitl+
Allele Type:    Targeted (Null/knockout, Reporter)
Mutation:    Insertion
Mutation detailsExon 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)
View phenotypes for all genotypes (concatenated display).
Disease models
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 Rs1 Mutation:  2 strains or lines available
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
All:  10 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 6.01
The Jackson Laboratory