Rs1^tm1Web
Targeted Allele Detail

Summary

• Symbol: Rs1^tm1Web
• Name: retinoschisis (X-linked, juvenile) 1 (human); targeted mutation 1, Bernhard H F Weber
• MGI ID: MGI:2179757
• Synonyms: Rs1h^-, Rs1h-, Rs1^tm1Bhfw
• Gene: Rs1 Location: ChrX:159551009-159582659 bp, + strand Genetic Position: ChrX, 73.95 cM
• Alliance: Rs1^tm1Web page

Macromorphological evaluation of the Rs1^tm1Web/Y retina with scanning laser ophthalmoscopy

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

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:76332
• Parent Cell Line: CJ7 (ES Cell)
• Strain of Origin: 129S1/Sv-Oca2⁺ Tyr⁺ Kitl⁺

Mutation description

• Allele Type: Targeted (Null/knockout, Reporter)
• Mutation: Insertion
• 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)

Disease models

Expression

In Mice Carrying this Mutation:	1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	4 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Rs1 Mutation: 6 strains or lines available

References

• 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: 13 reference(s)