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Am J Physiol Cell Physiol. 2018 May 1;314(5):C569-C588. doi: 10.1152/ajpcell.00301.2017. Epub 2018 Jan 31.

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

Parker MD1,2,3.

Author information

1
Department of Physiology and Biophysics, The State University of New York: The University at Buffalo , Buffalo, New York.
2
Department of Ophthalmology, Jacobs School of Medicine and Biomedical Sciences, University at Buffalo: The State University of New York , Buffalo, New York.
3
State University of New York Eye Institutes, University at Buffalo: The State University of New York , Buffalo, New York.

Abstract

The SLC4 family Cl-/[Formula: see text] 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-linked 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 [Formula: see text]-transporter dysfunction.

KEYWORDS:

acid-base; disease; epithelia; knockout; pH

PMID:
29384695
PMCID:
PMC6008066
DOI:
10.1152/ajpcell.00301.2017
[Indexed for MEDLINE]
Free PMC Article

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