abnormal retinal rod cell outer segment morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the retinal rod cell region which contains stacks of membranous discs separate from the outer cell membrane that are rich in the visual pigment rhodopsin (Mammalian Phenotype Ontology, MP_0008456)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0008456
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Genes

19 gene mutations causing the abnormal retinal rod cell outer segment morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
CABP4 calcium binding protein 4
CLN8 ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
CNGB1 cyclic nucleotide gated channel beta 1
ELOVL4 ELOVL fatty acid elongase 4
GNAT1 guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1
GRK1 G protein-coupled receptor kinase 1
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)
RDH12 retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
RHO rhodopsin
ROM1 retinal outer segment membrane protein 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