abnormal retinal cone 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 in the retina, in which the photopigment is in invaginations of the cell membrane of the outer segment; cones are less sensitive to light than rods, but they provide vision with higher spatial and temporal acuity, and the combination of signals from cones with different pigments allows color vision (Mammalian Phenotype Ontology, MP_0001006)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0001006
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Genes

38 gene mutations causing the abnormal retinal cone cell morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
AIPL1 aryl hydrocarbon receptor interacting protein-like 1
ATOH7 atonal homolog 7 (Drosophila)
C1QTNF5 C1q and tumor necrosis factor related protein 5
CABP4 calcium binding protein 4
CACNA1F calcium channel, voltage-dependent, L type, alpha 1F subunit
CCDC66 coiled-coil domain containing 66
CEP290 centrosomal protein 290kDa
CNGA3 cyclic nucleotide gated channel alpha 3
CNGB3 cyclic nucleotide gated channel beta 3
EGFLAM EGF-like, fibronectin type III and laminin G domains
ELOVL4 ELOVL fatty acid elongase 4
GJA10 gap junction protein, alpha 10, 62kDa
GNAT2 guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2
GUCA1A guanylate cyclase activator 1A (retina)
GUCY2D guanylate cyclase 2D, membrane (retina-specific)
LPCAT1 lysophosphatidylcholine acyltransferase 1
LRAT lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
MITF microphthalmia-associated transcription factor
NEUROD1 neuronal differentiation 1
NR2E3 nuclear receptor subfamily 2, group E, member 3
NRL neural retina leucine zipper
NXNL1 nucleoredoxin-like 1
NXNL2 nucleoredoxin-like 2
OTX2 orthodenticle homeobox 2
PDE6B phosphodiesterase 6B, cGMP-specific, rod, beta
PDE6C phosphodiesterase 6C, cGMP-specific, cone, alpha prime
PEX1 peroxisomal biogenesis factor 1
PROM1 prominin 1
PRPH2 peripherin 2 (retinal degeneration, slow)
RHO rhodopsin
RP1 retinitis pigmentosa 1 (autosomal dominant)
RPE65 retinal pigment epithelium-specific protein 65kDa
RPGR retinitis pigmentosa GTPase regulator
RS1 retinoschisin 1
SEMA4A sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A
STRA6 stimulated by retinoic acid 6
THRB thyroid hormone receptor, beta
USH2A Usher syndrome 2A (autosomal recessive, mild)