short photoreceptor inner segment Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description decreased length 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_0008582)
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15 gene mutations causing the short photoreceptor inner segment phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ATP1B2 ATPase, Na+/K+ transporting, beta 2 polypeptide
CLN8 ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
CRB1 crumbs family member 1, photoreceptor morphogenesis associated
CRX cone-rod homeobox
LAMB2 laminin, beta 2 (laminin S)
LCA5 Leber congenital amaurosis 5
OAT ornithine aminotransferase
PDE6A phosphodiesterase 6A, cGMP-specific, rod, alpha
PFDN5 prefoldin subunit 5
RP1 retinitis pigmentosa 1 (autosomal dominant)
RPE65 retinal pigment epithelium-specific protein 65kDa
RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1
STRA6 stimulated by retinoic acid 6
TULP1 tubby like protein 1
USH2A Usher syndrome 2A (autosomal recessive, mild)