abnormal retinal rod cell morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of one of the photoreceptor cell types of the vertebrate retina, in which the photopigment is in stacks of membranous disks separate from the outer cell membrane; rods are more sensitive to light than cones, but rod mediated vision has less spatial and temporal resolution than cone vision (Mammalian Phenotype Ontology, MP_0001005)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0001005
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Genes

44 gene mutations causing the abnormal retinal rod cell 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
ATOH7 atonal homolog 7 (Drosophila)
ATXN7 ataxin 7
BSN bassoon presynaptic cytomatrix protein
C1QTNF5 C1q and tumor necrosis factor related protein 5
CABP4 calcium binding protein 4
CCDC66 coiled-coil domain containing 66
CEP290 centrosomal protein 290kDa
CLN8 ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
CNGB1 cyclic nucleotide gated channel beta 1
EGFLAM EGF-like, fibronectin type III and laminin G domains
ELOVL4 ELOVL fatty acid elongase 4
ERC2 ELKS/RAB6-interacting/CAST family member 2
FOS FBJ murine osteosarcoma viral oncogene homolog
GJA10 gap junction protein, alpha 10, 62kDa
GNAT1 guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1
GNB3 guanine nucleotide binding protein (G protein), beta polypeptide 3
GNGT1 guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 1
GRK1 G protein-coupled receptor kinase 1
LAMB2 laminin, beta 2 (laminin S)
LPCAT1 lysophosphatidylcholine acyltransferase 1
LRAT lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
MERTK MER proto-oncogene, tyrosine kinase
MITF microphthalmia-associated transcription factor
MYO7A myosin VIIA
NRL neural retina leucine zipper
NTRK2 neurotrophic tyrosine kinase, receptor, type 2
PANK2 pantothenate kinase 2
PDE6B phosphodiesterase 6B, cGMP-specific, rod, beta
PEX1 peroxisomal biogenesis factor 1
PROM1 prominin 1
PRPH2 peripherin 2 (retinal degeneration, slow)
RD3 retinal degeneration 3
RDH12 retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
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
SAG S-antigen; retina and pineal gland (arrestin)
SEMA4A sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A
TLR4 toll-like receptor 4