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FLASH GENE
Symbol RS1 contributors: shn - updated : 17-04-2012
HGNC name retinoschisin 1
HGNC id 10457
ASSOCIATED DISORDERS
corresponding disease(s) RS1
related resource X-Linked Juvenile Retinoschisis
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
Therapy target
ANIMAL & CELL MODELS
  • Pathologic changes in hemizygous Rs1h(-/Y) male mice are a marked splitting of the inner nuclear layer, a disorganization of the retinal cell layers, and a later degeneration of the photoreceptors whitch is more pronounced in cones
  • Rs1h-KO mice display a thinned and disorganized outer nuclear layer, rod outer segments are misaligned and abundant schisis cavities spanned the inner nuclear, ERG a- and b-wave amplitudes are reduced by 33% and 50%, respectively