abnormal photoreceptor inner segment morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the photoreceptor region which contains the machinery of the cell (mitochondria, golgi, endoplasmic reticulum, etc) and where opsin molecules are assembled and passed to be part of the outer segment region (Mammalian Phenotype Ontology, MP_0003730)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0003730
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Genes

39 gene mutations causing the abnormal photoreceptor inner segment morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
AGTPBP1 ATP/GTP binding protein 1
AIPL1 aryl hydrocarbon receptor interacting protein-like 1
ARL6 ADP-ribosylation factor-like 6
ASIC3 acid sensing (proton gated) ion channel 3
ATP1B2 ATPase, Na+/K+ transporting, beta 2 polypeptide
BBS1 Bardet-Biedl syndrome 1
BBS4 Bardet-Biedl syndrome 4
C1QTNF5 C1q and tumor necrosis factor related protein 5
CCDC66 coiled-coil domain containing 66
CEP290 centrosomal protein 290kDa
CLCN2 chloride channel, voltage-sensitive 2
CLCN3 chloride channel, voltage-sensitive 3
CLCN7 chloride channel, voltage-sensitive 7
CLN8 ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
CRB1 crumbs family member 1, photoreceptor morphogenesis associated
CRX cone-rod homeobox
GUCY2D guanylate cyclase 2D, membrane (retina-specific)
LAMB2 laminin, beta 2 (laminin S)
LCA5 Leber congenital amaurosis 5
LMO7 LIM domain 7
MITF microphthalmia-associated transcription factor
OAT ornithine aminotransferase
PANK2 pantothenate kinase 2
PDE6A phosphodiesterase 6A, cGMP-specific, rod, alpha
PFDN5 prefoldin subunit 5
PRPH2 peripherin 2 (retinal degeneration, slow)
RDH13 retinol dehydrogenase 13 (all-trans/9-cis)
RHO rhodopsin
RP1 retinitis pigmentosa 1 (autosomal dominant)
RPE65 retinal pigment epithelium-specific protein 65kDa
RPGR retinitis pigmentosa GTPase regulator
RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1
RS1 retinoschisin 1
STRA6 stimulated by retinoic acid 6
TTC8 tetratricopeptide repeat domain 8
TUB tubby bipartite transcription factor
TULP1 tubby like protein 1
UCHL3 ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase)
USH2A Usher syndrome 2A (autosomal recessive, mild)