short photoreceptor outer segment Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description decreased length of the photoreceptor region that is rich in the visual pigment rhodopsin (Mammalian Phenotype Ontology, MP_0008587)
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36 gene mutations causing the short photoreceptor outer segment phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ATP1B2 ATPase, Na+/K+ transporting, beta 2 polypeptide
ATP8A2 ATPase, aminophospholipid transporter, class I, type 8A, member 2
ATXN7 ataxin 7
C1QTNF5 C1q and tumor necrosis factor related protein 5
CEP290 centrosomal protein 290kDa
CHM choroideremia (Rab escort protein 1)
CLN8 ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
CRB1 crumbs family member 1, photoreceptor morphogenesis associated
DFNB31 deafness, autosomal recessive 31
FSCN2 fascin actin-bundling protein 2, retinal
GNGT1 guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 1
GUCA1A guanylate cyclase activator 1A (retina)
LAMB2 laminin, beta 2 (laminin S)
LCA5 Leber congenital amaurosis 5
LRAT lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
MDM1 Mdm1 nuclear protein homolog (mouse)
NAGLU N-acetylglucosaminidase, alpha
NPHP4 nephronophthisis 4
NR2E3 nuclear receptor subfamily 2, group E, member 3
NRL neural retina leucine zipper
NXNL2 nucleoredoxin-like 2
OAT ornithine aminotransferase
PDE6A phosphodiesterase 6A, cGMP-specific, rod, alpha
PFDN5 prefoldin subunit 5
PRPH2 peripherin 2 (retinal degeneration, slow)
RBP3 retinol binding protein 3, interstitial
RHO rhodopsin
ROM1 retinal outer segment membrane protein 1
RP1 retinitis pigmentosa 1 (autosomal dominant)
RP1L1 retinitis pigmentosa 1-like 1
RPE65 retinal pigment epithelium-specific protein 65kDa
RPGR retinitis pigmentosa GTPase regulator
SLC4A7 solute carrier family 4, sodium bicarbonate cotransporter, member 7
STRA6 stimulated by retinoic acid 6
TULP1 tubby like protein 1
USH2A Usher syndrome 2A (autosomal recessive, mild)