Mouse models of SLC4-linked disorders of HCO3−-transporter dysfunction

Mark D. Parker
2018 American Journal of Physiology - Cell Physiology  
Parker MD. Mouse models of SLC4-linked disorders of HCO 3 Ϫ -transporter dysfunction. The SLC4 family Cl Ϫ /HCO 3 Ϫ exchangers (AE1, AE2, and AE3) and Na ϩ -HCO 3 Ϫ cotransporters (NBCe1, NBCe2, NBCn1, and NBCn2) contribute to a variety of vital physiological processes including pH regulation and epithelial fluid secretion. Accordingly, their dysfunction can have devastating effects. Disorders such as epilepsy, hemolytic anemia, glaucoma, hearing loss, osteopetrosis, and renal tubular acidosis
more » ... l tubular acidosis are all genetically linked to SLC4-family gene loci. This review summarizes how studies of Slc4-modified mice have enhanced our understanding of the etiology of SLC4linked pathologies and the interpretation of genetic linkage studies. The review also surveys the novel disease signs exhibited by Slc4-modified mice which could either be considered to presage their description in humans, or to highlight interspecific differences. Finally, novel Slc4-modified mouse models are proposed, the study of which may further our understanding of the basis and treatment of SLC4-linked disorders of HCO 3 Feigelson HS, Calle EE, Thun MJ, Diver WR, Bojesen S, Nordestgaard BG, Flyger H, et al. Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2. Loss of the AE3 anion exchanger in a hypertrophic cardiomyopathy model causes rapid decompensation and heart failure. Kieller DM, Quon AL, Robertson M, Casey JR. Cardiac hypertrophy in anion exchanger 1-null mutant mice with severe hemolytic anemia. Rennert G, et al. Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implica-
doi:10.1152/ajpcell.00301.2017 pmid:29384695 fatcat:hqiexbs4fvdndhphosr54aoc44