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FLASH GENE

Symbol

RS1

contributors: shn - updated : 17-04-2012

HGNC name	retinoschisin 1
HGNC id	10457

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

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