International Mammalian Genome Society

The 16th International Mouse Genome Conference (2002)

Oral Presentation

Monday 18 November

17:30 - 17:45 HRS


Karen P Steel
MRC Institute of Hearing Research

Co-Authors: 1) Kiernan AE, 1) Erven AE, 1) Rhodes C, 1) Quint E, 1) Hawker K, 1) Pau H, 2) Tsai H, 2) Hardisty RE, 2) Nolan P, 2) Peters J, 3) Hunter AJ, 4) Ahituv N, 4) Hertzano R, 4) Vreugde S, 4) Avraham KB, 5) Fuchs H, 6) Balling R, 5) Hrabé De Angelis M, 2) Brown SDM, 7) Guénet JL
Institutions: 1) MRC Institute of Hearing Research, 2) MRC Mammalian Genetics Unit, 3) GSK, 4) Tel Aviv University, 5) GSF, 6) GBF, 7) Institut Pasteur

Screens for hearing and balance impairments were added to the ENU mutagenesis programmes in Harwell and Munich, and more than 50 new confirmed dominantly-inherited mutants were recovered from the 53,000 mice screened in the first three years of the project.  We have mapped 19 of these new mutants and characterised the phenotype in all of them.  Six of the mutations have been identified, in the Tmc1, Tcfap2, Emx2, Myo7a and Jag1 (two mutations) genes.  Tmc1 is a novel gene also shown to be involved in a recessive, spontaneous mouse mutation (called deafness) as well as in several human families segregating deafness.  Myo7a was previously known to be involved in recessive deafness in shaker1 mouse mutants and in various forms of human deafness.  The remaining three genes, Tcfap2, Emx2 and Jag1, have all been knocked out previously, but no hearing or balance defect was reported in carriers of the interrupted gene.  It will be interesting to establish whether the difference in hearing and balance defects between the new ENU-induced mutations and the knockout carriers result from differences in the nature of the mutation or because of genetic background differences, or indeed because hearing and balance defects were present but not noticed in the knockout stocks.

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