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Human Molecular Genetics Advance Access originally published online on July 8, 2003
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Human Molecular Genetics, 2003, Vol. 12, No. 16 2049-2061
DOI: 10.1093/hmg/ddg210
© 2003 Oxford University Press

Claudin 14 knockout mice, a model for autosomal recessive deafness DFNB29, are deaf due to cochlear hair cell degeneration

Tamar Ben-Yosef1, Inna A. Belyantseva1, Thomas L. Saunders2, Elizabeth D. Hughes2, Kohei Kawamoto3,{dagger}, Christina M. Van Itallie4, Lisa A. Beyer3, Kärin Halsey3, Donald J. Gardner5, Edward R. Wilcox1, Julia Rasmussen6, James M. Anderson6, David F. Dolan3, Andrew Forge7, Yehoash Raphael3, Sally A. Camper2 and Thomas B. Friedman1,*

1Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, USA, 2Department of Internal Medicine, Division of Molecular Medicine and Genetics, University of Michigan, Ann Arbor, MI 48109-0638, USA, 3Kresge Hearing Research Institute, University of Michigan Medical School, Ann Arbor, MI 48109-0648, USA, 4Department of Medicine, UNC at Chapel Hill, Chapel Hill, NC 27599, USA, 5Veterinary Resources Program, National Institutes of Health, Bethesda, MD, USA, 6Department of Cell and Molecular Physiology, UNC at Chapel Hill, Chapel Hill, NC 27599, USA and 7UCL Centre for Auditory Research and Institute of Laryngology and Otology, University College London, London WC1X 8EE, UK

Received May 2, 2003; Accepted June 16, 2003

Tight junctions (TJs) create ion-selective paracellular permeability barriers between extracellular compartments. In the organ of Corti of the inner ear, TJs of the reticular lamina separate K+-rich endolymph and Na+-rich perilymph. In humans, mutations of the gene encoding claudin 14 TJ protein cause profound deafness but the underlying pathogenesis is unknown. To explore the role of claudin 14 in the inner ear and in other tissues we created a mouse model by a targeted deletion of Cldn14. In the targeted allele a lacZ cassette is expressed under the Cldn14 promoter. In Cldn14-lacZ heterozygous mice ß-galactosidase activity was detected in cochlear inner and outer hair cells and supporting cells, in the collecting ducts of the kidney, and around the lobules of the liver. Cldn14-null mice have a normal endocochlear potential but are deaf due to rapid degeneration of cochlear outer hair cells, followed by slower degeneration of the inner hair cells, during the first 3 weeks of life. Monolayers of MDCK cells expressing claudin 14 show a 6-fold increase in the transepithelial electrical resistance by decreasing paracellular permeability for cations. In wild type mice, claudin 14 was immunolocalized at hair cell and supporting cell TJs. Our data suggest that the TJ complex at the apex of the reticular lamina requires claudin 14 as a cation-restrictive barrier to maintain the proper ionic composition of the fluid surrounding the basolateral surface of outer hair cells.

* To whom correspondence should be addressed at: 5 Research Court, Room 2A-19, NIDCD/NIH, Rockville, MD 20850, USA. Tel: +1 3014967882; Fax: +1 3014027580; Email: friedman{at}nidcd.nih.gov

{dagger} Present address: Kansai Medical University, Department of Otolaryngology, 10–15 Fumizonocho, Moriguchi, Osaka 570–8507, Japan.


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