title: The deaf mouse mutant Jeff (Jf) is a single gene model of otitis media.
abstract: Otitis media is the most common cause of hearing impairment in children and is primarily characterized by inflammation of the middle ear mucosa. Yet nothing is known of the underlying genetic pathways predisposing to otitis media in the human population. Increasingly, large-scale mouse mutagenesis programs have undertaken systematic and genome-wide efforts to recover large numbers of novel mutations affecting a diverse array of phenotypic areas involved with genetic disease including deafness. As part of the UK mutagenesis program, we have identified a novel deaf mouse mutant, Jeff (Jf). Jeff maps to the distal region of 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 have elevated hearing thresholds. Middle ear epithelia of Jeff mice show evidence of a chronic proliferative otitis media. The Jeff mutant should prove valuable in elucidating the underlying genetic pathways predisposing to otitis media.
authors.affiliation: MRC Mammalian Genetics Unit and UK Mouse Genome Centre, Harwell, OX11 0RD, UK.
authors.forename: Rachel E
authors.initials: RE
authors.lastname: Hardisty
authors.forename: Alexandra
authors.initials: A
authors.lastname: Erven
authors.forename: Karen
authors.initials: K
authors.lastname: Logan
authors.forename: Susan
authors.initials: S
authors.lastname: Morse
authors.forename: Sylvia
authors.initials: S
authors.lastname: Guionaud
authors.forename: Sara
authors.initials: S
authors.lastname: Sancho-Oliver
authors.forename: A Jackie
authors.initials: AJ
authors.lastname: Hunter
authors.forename: Steve D M
authors.initials: SD
authors.lastname: Brown
authors.forename: Karen P
authors.initials: KP
authors.lastname: Steel
mesh_terms: D000818:Animals; D001309:Auditory Threshold; D001824:Body Constitution; D002874:Chromosome Mapping; D002908:Chronic Disease; D019465:Craniofacial Abnormalities / Q000235:genetics; D003638:Deafness / Q000235:genetics* / Q000503:physiopathology; D004195:Disease Models, Animal; D006801:Humans; D051379:Mice; D008817:Mice, Mutant Strains / Q000235:genetics*; D010034:Otitis Media with Effusion / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D011506:Proteins / Q000235:genetics*; D013492:Suppuration
chemical_list: C481381:JF protein, mouse; D011506:Proteins