Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
Symbol RHO contributors: shn/mct - updated : 25-09-2017
HGNC name rhodopsin
HGNC id 10012
corresponding disease(s) RP4 , ARRP1 , CSNB6
related resource Rhodopsin
Variant & Polymorphism
Candidate gene
Therapy target
expression of a dominant-active Drosophila Rho guanosine triphosphatase, Drac1, rescued photoreceptor morphogenesis in rhodopsin-null mutants
  • Mice carrying the missense mutation (P23H) in the rhodopsin gene and mice overexpressing the wild-type human rodhopsin gene develop photoreceptor degeneration
  • mice carrying a targeted disruption of the rhodopsin gene do not elaborate rod outer segments, there is no rod ERG response in 8-week-old animals and lose their photoreceptors over 3 months. Rho+/- mice display structural disorganization of the retina
  • rhodopsin knockout mice display completely photoreceptor cells degeneration
  • Rho-/- mice do not express the apoprotein opsin in photoreceptors are completely protected against light-induced apoptosis
  • English Mastiff dogs with a naturally occurring dominant retinal degeneration and a dramatically slowed time course of recovery of rod photoreceptor function after light exposure have a point mutation in the RHO gene (Thr4Arg)
  • rats expressing mutations in rhodopsin gene display photoreceptor cell damage from exposure to light
  • T17M mutant human rhodopsin transgene in mice exhibit a sensitivity to light-induced damage causing severe loss of a- and b-wave ERG responses and photoreceptor apoptosis
  • introduction of Rh1P37H mutation corresponding to human RhoP23H in Drosophila leads to photoreceptor degeneration due to rhodopsin mislocalizion
  • ENU-mutagenized mouse line (R3) carrying an homozygous Rho mutation (p.C185R) lose photoreceptors rapidly with flat a- and b-waves ERG, R3/+ mice have a slower rate of photoreceptor cell loss