International Mammalian Genome Society

17th International Mouse Genome Conference

9-12 November 2003, Braunschweig, Germany


POSTER 93 - JEFF, A SINGLE GENE MODEL OF OTITIS MEDIA

Hardisty R E
MRC Mammalian Genetics Unit and UK Mouse Genome Centre, Harwell

Co-Authors: 1) Morse S A, 1) Logan K, 2) Guionaud S, 2) Sancho-Oliver S, 3) Erven A, 3) Steel KP, 1) Brown SDM
Institutions: 1) MRC Mammalian Genetics Unit and UK Mouse Genome Centre, Harwell, 2) Frimorpho Ltd, Fribourg, Switzerland, 3) MRC Institute of Hearing Research, Nottingham

Otitis media, the most common cause of hearing impairment in children, is primarily characterised by inflammation of the middle ear mucosa. Yet nothing is known of the genetic pathways predisposing to otitis media in the human population. As part of the UK mutagenesis programme we have identified a novel deaf mouse mutant, Jeff (Jf). Jeff maps to mouse chromosome 17 and presents with fluid and pus in the middle ear cavity. Jeff mutants are 21% smaller than wild-type littermates, have a mild craniofacial abnormality and elevated hearing thresholds. Middle ear epithelia of Jeff mice show evidence of a chronic proliferative otitis media. 3D reconstruction showed a middle ear cavity reduced in size and a bent Eustachian tube. In order to determine if a pathogen-free environment would affect the development of otitis media in Jeff mutants, we rederived mice into both conventional and pathogen-free facilities. Surprisingly, we found that rederived mice in both environments developed deafness and affected mice had glue in their middle ears as observed in sections. (Hardisty et al., (2003) JARO 4 (2) 130-138).

A Mutation has been found in a conserved region of a novel gene in the critical region of mouse chromosome 17. This gene is expressed in the developing middle ear epithelium and palate at E14.5. Mice homozygous for this mutation are born with a cleft of the hard or soft palate, open upper eyelids and die soon after birth.

The Jeff mutant should prove valuable in elucidating the underlying genetic pathways predisposing to otitis media.


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