Abstract:Mutations in the Kelch‐like 3 (KLHL3) gene are the most common cause of inherited pseudohypoaldosteronism type II (PHAII) featuring thiazide‐sensitive hypertension and hyperkalemic metabolic acidosis. Although Klhl3R528H/+ knock‐in (KI) mice carrying a missense mutation in the Kelch repeat domain have been reported, nonsense KLHL3 mutations in the same domain that cause PHAII have not been fully investigated in vivo. We generated and analyzed Klhl3 KI mice harboring a nonsense W523X mutation (corresponding to … Show more
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