abnormal macula densa morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the specialized group of densely packed epithelial cells marking the origin of the convoluted portion of the distal tubule of a nephron, in contact with the afferent arteriole of the renal corpuscle and contiguous with the juxtaglomerular cells; these cells are tall, thin and columnar, have prominent nuclei, and act as sensors of solute concentration and flow of tubular fluid (Mammalian Phenotype Ontology, MP_0011299)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0011299
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2 gene mutations causing the abnormal macula densa morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
NR3C2 nuclear receptor subfamily 3, group C, member 2
REN renin