International Mammalian Genome Society

The 14th International Mouse Genome Conference (2000)


B25. The Deaf Mouse Mutant Jeff (Jf) is A Single Gene Model for OME (glue ear)

Rachel E. Hardisty1, Alexandra Erven2, Karen Logan1, Patrick M. Nolan1, Jo Peters1, Sohaila Rastan3, A. Jackie Hunter3, Steve D. M. Brown1 and Karen P. Steel2
1MRC Mammalian Genetics Unit and UK Mouse Genome Centre, Harwell, Oxon, UK, OX11 0RD,
2
MRC Institute of Hearing Research, University Park, Nottingham, UK, NG7 2RD,
3
Departments of Neuroscience and Biotechnology and Genetics, SmithKline Beecham Pharmaceuticals, New Frontiers Science Park, Harlow, UK.

In order to undertake systematic and comprehensive approaches to the study of mammalian gene function , a phenotype driven approach using the powerful mutagen ENU has been undertaken at MRC Harwell (Nolan et al., Nature Genetics, in press). We have undertaken a dominant screen where the F1 progeny of mutagenised BALB/c males are screened using the comprehensive screening protocol, SHIRPA (Rogers et al., Mammalian Genome 8:711, 1997). Within this protocol there are tests designed to identify phenotypes with impaired hearing and balance. One such mutant that was isolated from the mutagenesis programme is Jeff. Jeff was identified as being deaf, having a mild craniofacial abnormality and reduced body weight (21% smaller than their siblings). This dominant mutation is fully penetrant on the original background. On investigation of the ear, Jeff was found to have fluid and pus in the middle ear cavity. No inner ear abnormalities were identified. From sections of newborn animals and 3D reconstructions, the eustachian tube shows a marked narrowing. FACs analysis demonstrates that several components of the immune response are elevated in Jeff mice. The gram-positive cocci, Micrococcus kirstinae has been isolated from the middle ear cavity. This mutation has been mapped using a rapid IVF backcross and fluorescent markers to the distal region of mouse chromosome 17. Candidate genes from the region are under investigation. Glue ear is the most common cause of surgery in children and this model should prove valuable in elucidating the causes and possible treatment of glue ear.


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