| 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 |
| Similar Terms | |
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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 |
