absent photoreceptor outer segment Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description absence of the photoreceptor region that is rich in the visual pigment rhodopsin (Mammalian Phenotype Ontology, MP_0008585)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0008585
Similar Terms
Downloads & Tools


15 gene mutations causing the absent photoreceptor outer segment phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
AHI1 Abelson helper integration site 1
ARL3 ADP-ribosylation factor-like 3
ARL6 ADP-ribosylation factor-like 6
CLCN7 chloride channel, voltage-sensitive 7
CRX cone-rod homeobox
MITF microphthalmia-associated transcription factor
OAT ornithine aminotransferase
PDE6A phosphodiesterase 6A, cGMP-specific, rod, alpha
PDE6B phosphodiesterase 6B, cGMP-specific, rod, beta
PRPH2 peripherin 2 (retinal degeneration, slow)
RHO rhodopsin
RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1
RS1 retinoschisin 1
SEMA4A sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A
TULP1 tubby like protein 1