Journal
AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY
Volume 314, Issue 5, Pages C569-C588Publisher
AMER PHYSIOLOGICAL SOC
DOI: 10.1152/ajpcell.00301.2017
Keywords
acid-base; disease; epithelia; knockout; pH
Categories
Funding
- Department of Physiology and Biophysics
- Jacobs School of Medicine and Biomedical Sciences at the University at Buffalo
- National Eye Institute Grant [EY028580]
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The SLC4 family Cl-/HCO(3)(-)exchangers (AE1, AE2, and AE3) and Na+-HCO3- 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 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 SLC4-inked 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 HCO3--transporter dysfunction.
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