abnormal retinal outer plexiform layer morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the retinal layer that is the site of synapses between the rods and cones (axons) and the horizontal and bipolar cells (dendrites) (Mammalian Phenotype Ontology, MP_0003732)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0003732
Similar Terms
Downloads & Tools


29 gene mutations causing the abnormal retinal outer plexiform layer morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1
AIPL1 aryl hydrocarbon receptor interacting protein-like 1
ASIC3 acid sensing (proton gated) ion channel 3
ATOH7 atonal homolog 7 (Drosophila)
CABP4 calcium binding protein 4
CACNA1F calcium channel, voltage-dependent, L type, alpha 1F subunit
CACNA2D4 calcium channel, voltage-dependent, alpha 2/delta subunit 4
CRB2 crumbs family member 2
CRX cone-rod homeobox
DNAJC5 DnaJ (Hsp40) homolog, subfamily C, member 5
DSCAML1 Down syndrome cell adhesion molecule like 1
ELOVL4 ELOVL fatty acid elongase 4
ERC2 ELKS/RAB6-interacting/CAST family member 2
GJA10 gap junction protein, alpha 10, 62kDa
LAMB2 laminin, beta 2 (laminin S)
LARGE like-glycosyltransferase
LRP5 low density lipoprotein receptor-related protein 5
MAP1B microtubule-associated protein 1B
MDM1 Mdm1 nuclear protein homolog (mouse)
NDP Norrie disease (pseudoglioma)
NPHP4 nephronophthisis 4
NR2E1 nuclear receptor subfamily 2, group E, member 1
PRPH2 peripherin 2 (retinal degeneration, slow)
RORB RAR-related orphan receptor B
RRAS2 related RAS viral (r-ras) oncogene homolog 2
RS1 retinoschisin 1
TRIM2 tripartite motif containing 2
TULP1 tubby like protein 1
UCHL3 ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase)