abnormal kidney collecting duct principal cell morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural abnormality of the cuboidal epithelial cells found in the collecting ducts of the kidney which regulate sodium and potassium balance via channels located on the cells apical membrane. Aldosterone increases the number of Na+/K+-ATPase pumps that allow increased sodium reabsorption and potassium secretion whereas antidiuretic hormone (vasopressin) determines the expression of aquaporin channels on the cell surface; together, aldosterone and vasopressin let the principal cell control the quantity of water that is reabsorbed (Mammalian Phenotype Ontology, MP_0011757)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0011757
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1 gene mutations causing the abnormal kidney collecting duct principal cell morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
CD63 CD63 molecule