Mutations in the human gene that encodes the AE1 Cl−/HCO 3− exchanger (SLC4A1) cause
autosomal recessive and dominant forms of distal renal tubular acidosis (dRTA). A mouse
model that lacks AE1/slc4a1 (slc4a1−/−) exhibited dRTA characterized by spontaneous
hyperchloremic metabolic acidosis with low net acid excretion and, inappropriately, alkaline
urine without bicarbonaturia. Basolateral Cl−/HCO 3− exchange activity in acid-secretory
intercalated cells of isolated superfused slc4a1−/− medullary collecting duct was reduced …