absent retinal cone cells Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description absence 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 (Mammalian Phenotype Ontology, MP_0008447)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0008447
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2 gene mutations causing the absent retinal cone cells phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
MITF microphthalmia-associated transcription factor
PRPH2 peripherin 2 (retinal degeneration, slow)