International Mammalian Genome Society

The 15th International Mouse Genome Conference (2001)


Karen P Steel
MRC Institute of Hearing Research
University Park
Nottingham NG7 2RD UK

Co-Authors: 1)Steel K, 1)Kiernan A, 1)Erven A, 1)Rhodes C, 2)Tsai H, 2)Hardisty R, 2)Nolan P, 2)Peters J, 2)Brown SDM, 3)Hunter AJ, 4)Ahituv N, 4)Hertzano R, 4)Vreugde S, 4)Avraham K, 5)Fuchs H, 6)Balling R, 5) Hrabé de Angelis M, 7)JL Guénet
Institutions: 1)MRC Institute of Hearing Research, 2)MRC Mammalian Genetics Unit and Mouse Genome Centre, 3)GlaxoSmithKline, 4) Dept of Human Genetics and Molecular Medicine, Sackler School of Medicine, 5)Institute of Experimental Genetics, GSF Research Centre for Environment and Health, 6)Institute of Mammalian Genetics, GSF Research Centre for Environment and Health, 7)Institut Pasteur

Mouse mutants with ear defects are valuable as models for human hereditary deafness, as well as giving us tools for understanding normal cochlear development and function. 53,000 F1 offspring of males treated with N-ethyl-N-nitrosourea (ENU) were screened for balance defects or deafness. We found 50 new mutations with dominant inheritance, and describe here the first 17 studied.

Eight new mutants map to proximal chromosome 4 and show lateral semicircular canal truncations; these may be new alleles of the Wheels locus. Two mutants (Headturner and Slalom) have been identified as Jag1 mutations, and show truncation of the posterior and anterior semicircular canals as well as pattern defects in the organ of Corti, a unique phenotype. Three mutants have middle ear defects: Doarad on chromosome 13 has misshapen ossicles, Pardon on chromosome 19 has malformed ossicles combined with supernumary hair cells in the organ of Corti, and Jeff shows a predisposition to middle ear inflammation, the mutation mapping to chromosome 17. Two mutants have abnormal development of stereocilia bundles, Tailchaser on chromosome 2 and Headbanger on chromosome 7. Beethoven on chromosome 19 shows progressive postnatal degeneration of hair cells. Dearisch mutants have progressive hearing loss but the mutation is not yet mapped.

Eight of these mutants show novel phenotypes, suggesting that the mutagenesis programmes will continue to be a rich resource for investigating auditory function and development. (Supported by the MRC, EC contract CT97-2715, Defeating Deafness and GlaxoSmithKline)

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