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FLASH GENE
Symbol PRPH2 contributors: shn - updated : 02-02-2017
HGNC name peripherin 2 (retinal degeneration, slow)
HGNC id 9942
ANIMAL & CELL MODELS
  • knockout mice carrying a homozygous null mutation in perhipherin/rds fail to develop photoreceptor outer segments
  • an insertion of a 9.2-kb repetitive genomic element into rds exon 2 is responsible for the murine Mouse "retinal degeneration, slow (rds)" defect
  • transgenic/knockout mice that duplicate the amino acid substitutions and predicted levels of rds and rom1 in patients with RDS-mediated digenic and dominant RP display a faster photoreceptor degeneration
  • transgenic/knockout mice that duplicate the amino acid substitutions and predicted levels of rds and rom1 in patients with RDS-mediated digenic and dominant RP exhibit photoreceptor degeneration by outer segment disorganization
  • Mice homozygous for the retinal degeneration slow (rds) mutation exhibit abnormal development of photoreceptor cells, followed by their slow degeneration
  • single base deletion at codon 307 of the rds-peripherin gene in mice have a more rapid retinopathy than that in the naturally occurring null mutant rds(-/-) mouse
  • R172W/rds(-/-) mice display cone-rod dystrophy
  • rhodopsin-knockout mice failed to create normal rod outer segments and instead, elaborated membranous protrusions at the distal cilium tip
  • subretinal injection of recombinant adeno-associated virus (AAV) encoding a Prph2 transgene in rds mice results in stable generation of outer segment structures and formation of new stacks of discs containing both perpherin-2 and rhodopsin