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Beethoven, a mouse model for dominant, progressive hearing loss DFNA36

Nature Genetics volume 30, pages 257258 (2002) | Download Citation

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Abstract

Despite recent progress in identifying genes underlying deafness, there are still relatively few mouse models of specific forms of human deafness. Here we describe the phenotype of the Beethoven (Bth) mouse mutant and a missense mutation in Tmc1 (transmembrane cochlear-expressed gene 1). Progressive hearing loss (DFNA36) and profound congenital deafness (DFNB7/B11) are caused by dominant and recessive mutations of the human ortholog, TMC1 (ref. 1), for which Bth and deafness (dn)1 are mouse models, respectively.

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Acknowledgements

We thank J. Parkin for his help with the genotyping and A. Adato at the Crown Human Genome Center, the Weizmann Institute of Science, for bioinformatics assistance. This study was supported by grants from the European Commission (to K.P.S., K.B.A., R.B. and M.H.), the Israel Ministry of Health (to K.B.A.), the German Human Genome Project (to R.B. and M.H.), the UK Medical Research Council (to K.P.S. and C.J.K.), Defeating Deafness (to K.P.S.), the Constantiner Institute for Molecular Genetics at Tel Aviv University (to S.V.) and from the National Institutes of Health–National Institute on Deafness and Other Communication Disorders intramural funds (to T.B.F., E.R.W. and A.J.G.). This work was carried out in partial fulfillment of the requirements for a Ph.D. degree of S.V., Sackler Faculty of Medicine, Tel Aviv University, Israel.

Author information

Author notes

    • Sarah Vreugde
    •  & Alexandra Erven

    These authors contributed equally to this work.

Affiliations

  1. Department of Human Genetics and Molecular Medicine, Sackler School of Medicine, Tel Aviv University, Tel Aviv 69978, Israel.

    • Sarah Vreugde
    •  & Karen B. Avraham
  2. MRC Institute of Hearing Research, University Park, Nottingham, NG7 2RD, UK.

    • Alexandra Erven
    •  & Karen P. Steel
  3. School of Biological Sciences, University of Sussex, Falmer, Brighton BN1 9QG, UK.

    • Corné J. Kros
    •  & Walter Marcotti
  4. GSF Research Center for Environment and Health, Institute of Experimental Genetics, Neuherberg 85764, Germany.

    • Helmut Fuchs
    • , Rudi Balling
    •  & Martin Hrabé de Angelis
  5. Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, Maryland 20850, USA.

    • Kiyoto Kurima
    • , Edward R. Wilcox
    • , Thomas B. Friedman
    •  & Andrew J. Griffith

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Competing interests

A.G., K.K., E.W. and T.F. have filed a patent application for TMC1, Tmc1, TMC2 and Tmc2.

Corresponding author

Correspondence to Karen B. Avraham.

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DOI

https://doi.org/10.1038/ng848

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