Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

Symbol:	Rs1tm1Sie
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:	Rs1tm1Sie page

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

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)

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

8 anatomical structure(s)

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

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:	11 reference(s)