absent strial intermediate cells Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description absence of the melanocytes (i.e. crest-derived intermediate cells) normally located within the intrastrial space; loss of strial intermediate cells is known to lead to loss of the endocochlear potential (Mammalian Phenotype Ontology, MP_0006010)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0006010
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3 gene mutations causing the absent strial intermediate cells phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
EDNRB endothelin receptor type B
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
MITF microphthalmia-associated transcription factor