abnormal retinal rod cell inner segment morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the retinal rod cell 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_0008455)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0008455
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Genes

3 gene mutations causing the abnormal retinal rod cell inner segment morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
C1QTNF5 C1q and tumor necrosis factor related protein 5
CLN8 ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
PANK2 pantothenate kinase 2