Compound Heterozygosity of the Functionally Null Cdh23v-ngt and Hypomorphic Cdh23ahl Alleles Leads to Early-onset Progressive Hearing Loss in Mice

Author:

Miyasaka Yuki12,Suzuki Sari13,Ohshiba Yasuhiro12,Watanabe Kei14,Sagara Yoshihiko3,Yasuda Shumpei P.1,Matsuoka Kunie1,Shitara Hiroshi5,Yonekawa Hiromichi5,Kominami Ryo2,Kikkawa Yoshiaki1

Affiliation:

1. Mammalian Genetics Project, Tokyo Metropolitan Institute of Medical Science, 2-1-6 Kamikitazawa, Setagaya-ku, Tokyo 156-8506, Japan

2. Graduate School of Medical and Dental Sciences, Niigata University, 1-757 Asahimachi, Niigata 951-8510, Japan

3. Department of Bioproduction, Tokyo University of Agriculture, 196 Yasaka, Abashiri, Hokkaido 099-2493, Japan

4. Graduate School of Life and Environmental Sciences, University of Tsukuba, 1-1-1 Tennodai, Tsukuba, Ibaraki 305-8577, Japan

5. Center for Basic Technology Research, Tokyo Metropolitan Institute of Medical Science, 2-1-6 Kamikitazawa, Setagaya-ku, Tokyo 156-8506, Japan

Publisher

Japanese Association for Laboratory Animal Science

Subject

General Veterinary,General Biochemistry, Genetics and Molecular Biology,Animal Science and Zoology,General Medicine

Reference41 articles.

1. 1. Astuto L.M., Bork J.M., Weston M.D., Askew J.W., Fields R.R., Orten D.J., Ohliger S.J., Riazuddin S., Morell R.J., Khan S., Riazuddin S., Kremer H., van Hauwe P., Moller C.G., Cremers C.W., Ayuso C., Heckenlively J.R., Rohrschneider K., Spandau U., Greenberg J., Ramesar R., Reardon W., Bitoun P., Millan J., Legge R., Friedman T.B., and Kimberling W.J.2002. CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness. Am. J. Hum. Genet.71: 262-275.

2. 2. Anagnostopoulos A.V.2002. A compendium of mouse knockouts with inner ear defects. Trends. Genet.18: S21-S38.

3. 3. Beck J.A., Lloyd S., Hafezparast M., Lennon-Pierce M., Eppig J.T., Festing M.F., and Fisher E.M.2000. Genealogies of mouse inbred strains. Nat. Genet.24: 23-25.

4. 4. Bolz H., von Brederlow B., Ramírez A., Bryda E.C., Kutsche K., Nothwang H.G., Seeliger M., del C-Salcedó Cabrera M., Vila M.C., Molina O.P., Gal A., and Kubisch C. 2001. Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D. Nat. Genet.27: 108-112.

5. 5. Bork J.M., Peters L.M., Riazuddin S., Bernstein S.L., Ahmed Z.M., Ness S.L., Polomeno R., Ramesh A., Schloss M., Srisailpathy C.R., Wayne S., Bellman S., Desmukh D., Ahmed Z., Khan S.N., Kaloustian V.M., Li X.C., Lalwani A., Riazuddin S., Bitner-Glindzicz M., Nance W.E., Liu X.Z., Wistow G., Smith R.J., Griffith A.J., Wilcox E.R., Friedman T.B., and Morell R.J.2001. Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23. Am. J. Hum. Genet.68: 26-37.

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