[HTML][HTML] Phenotype resembling Gitelman's syndrome in mice lacking the apical Na+-Cl− cotransporter of the distal convoluted tubule

PJ Schultheis, JN Lorenz, P Meneton… - Journal of Biological …, 1998 - ASBMB
Mutations in the gene encoding the thiazide-sensitive Na+-Cl− cotransporter (NCC) of the
distal convoluted tubule cause Gitelman's syndrome, an inherited hypokalemic alkalosis
with hypomagnesemia and hypocalciuria. These metabolic abnormalities are secondary to
the deficit in NaCl reabsorption, but the underlying mechanisms are unclear. To gain a better
understanding of the role of NCC in sodium and fluid volume homeostasis and in the
pathogenesis of Gitelman's syndrome, we used gene targeting to prepare an NCC-deficient …