abnormal strial marginal cell morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly in the polarized columnar cells of epithelial origin which cover the lateral surface of the cochlear duct, secrete potassium ions and form a continuous sheet in contact with the endolymph; marginal cells form extensive interdigitations with the basal and intermediate cells in the normal adult stria (Mammalian Phenotype Ontology, MP_0004366)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0004366
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8 gene mutations causing the abnormal strial marginal cell morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
COL4A3 collagen, type IV, alpha 3 (Goodpasture antigen)
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
LRP2 low density lipoprotein receptor-related protein 2
NDP Norrie disease (pseudoglioma)
S1PR2 sphingosine-1-phosphate receptor 2
SCARB2 scavenger receptor class B, member 2
SLC12A2 solute carrier family 12 (sodium/potassium/chloride transporter), member 2
SLC26A4 solute carrier family 26 (anion exchanger), member 4