|Dataset||MPO Gene-Phenotype Associations|
|Category||disease or phenotype associations|
|Description||any structural anomaly of the simple cuboidal epithelium lining the lumen of kidney collecting ducts; the mature and differentiated CD epithelium comprises two unique cells types with principal cells responsible for vasopressin-regulated water reabsorption, and intercalated cells regulating acid-base homeostasis; injury to the epithelium is believed to cause epithelial cells to acquire mesenchymal characteristics via epithelial-mesenchymal transition (EMT), a process through which tubular epithelial cells may transform into interstitial fibroblasts and promote renal fibrosis (Mammalian Phenotype Ontology, MP_0011843)|
|Downloads & Tools|
7 gene mutations causing the abnormal kidney collecting duct epithelium morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.