retinal spots Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description the appearance of roundish lesions on the retina, frequently white, and may be due to inflammation, degeneration, vasculitis, exudates, edema or mineral deposits (Mammalian Phenotype Ontology, MP_0012671)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0012671
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Genes

8 gene mutations causing the retinal spots phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
CRX cone-rod homeobox
LAMA1 laminin, alpha 1
MFRP membrane frizzled-related protein
NPHP4 nephronophthisis 4
PDE6A phosphodiesterase 6A, cGMP-specific, rod, alpha
PRPH2 peripherin 2 (retinal degeneration, slow)
RPE65 retinal pigment epithelium-specific protein 65kDa
RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1