abnormal strial intermediate cell morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly in the melanocytes known to migrate from the neural crest during ontogeny to become located between the epithelial marginal cell layer and the mesodermal basal cell layer within the intrastrial space; the predominant cellular component of the electrogenic machinery that generates an endocochlear potential (80-100 mV) (Mammalian Phenotype Ontology, MP_0004367)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0004367
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Genes

8 gene mutations causing the abnormal strial intermediate cell morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
EDNRB endothelin receptor type B
FAS Fas cell surface death receptor
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
MITF microphthalmia-associated transcription factor
NDP Norrie disease (pseudoglioma)
S1PR2 sphingosine-1-phosphate receptor 2
SLC26A4 solute carrier family 26 (anion exchanger), member 4
TYRP1 tyrosinase-related protein 1