abnormal kidney collecting duct intercalated cell morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of any of the functionally distinct subtypes of cells (alpha or beta) found on the kidney collecting duct epithelium that regulate acid-base homeostasis and play an important role in the kidney's response to acidosis and alkalosis; alpha-intercalated cells secrete acid whereas beta-intercalated cells secrete base; metabolic acidosis results in the conversion of beta- cells to alpha-intercalated cells giving the kidney a greater ability to secrete protons and return pH to the normal range (Mammalian Phenotype Ontology, MP_0011754)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0011754
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1 gene mutations causing the abnormal kidney collecting duct intercalated cell morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
TFCP2L1 transcription factor CP2-like 1