| Dataset | MPO Gene-Phenotype Associations |
| Category | disease or phenotype associations |
| Type | phenotype |
| 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) |
| External Link | http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0011843 |
| Similar Terms | |
| Downloads & Tools |
7 gene mutations causing the abnormal kidney collecting duct epithelium morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.
