abnormal kidney collecting duct epithelium morphology Gene Set

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
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Genes

7 gene mutations causing the abnormal kidney collecting duct epithelium morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ANK3 ankyrin 3, node of Ranvier (ankyrin G)
CD63 CD63 molecule
FGF7 fibroblast growth factor 7
FOXI1 forkhead box I1
HSD17B2 hydroxysteroid (17-beta) dehydrogenase 2
TFCP2L1 transcription factor CP2-like 1
WNT9B wingless-type MMTV integration site family, member 9B