Rs1^tm1Sie
Targeted Allele Detail

Summary

• Symbol: Rs1^tm1Sie
• Name: retinoschisis (X-linked, juvenile) 1 (human); targeted mutation 1, Paul A Sieving
• MGI ID: MGI:3056058
• Synonyms: RS-1^-
• Gene: Rs1 Location: ChrX:159551009-159582659 bp, + strand Genetic Position: ChrX, 73.95 cM
• Alliance: Rs1^tm1Sie page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:93040
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129S/SvEv

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• 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)

Disease models

Expression

In Structures Affected by this Mutation:

8 anatomical structure(s)

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: 6 strains or lines available

References

• 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
• All: 12 reference(s)