International Mammalian Genome Society

The 16th International Mouse Genome Conference (2002)

Plenary Presentations * Oral Presentations *
Poster Presentations: Complex Genetics and Disease Modifiers * Developmental Genetics * Functional Genomics * Gene Discovery * Genetic Manipulations to Alter Gene Function * Mouse Models: Human Disease and Pharmacogenetics * Sequence Annotation and Comparative Analysis of Genomes *
Attendees * Sponsors * Table of Contents * Photographs * Awards

Oral Presentation

Monday 18 November

11:30 - 11:45 HRS

A MUTATION IN THE EVI1 LOCUS PREDISPOSES TO LATE ONSET OTITIS MEDIA WITH EFFUSION (OME) IN THE MOUSE DEAFNESS MODEL Junbo.

NJ Parkinson
MRC Mammalian Genetics Unit and Mouse Genome Centre

Co-Authors: Tsai H-T, Brooker D, MacKenzie F, Hardisty R, Clements S, Glenister P, Brown S
Institutions: MRC Mammalian Genetics Unit and Mouse Genome Centre

A genome wide phenotype driven ENU mutagenesis approach was adopted by our facility to describe, amongst others, novel dominantly inherited single locus deafness disorders in the mouse. One such mutant Junbo presents with progressive hearing loss with onset between 40 and 140 days of age. Histological examination of affected animals showed that the deafness appears to result from effusive matter filling the middle ear cavity providing evidence that Junbo represents a single locus model of otitis media. Among other phenotypic characterstics Junbo also displays partial polydactyly, reduced body weight and craniofacial abnormalities. Here we report the positional cloning of this mutant and the elucidation of the causal mutation, A2318T (N763I) in the transcription regulator Evi1 and present a model of how such a change in an oncogene commonly associated with leukaemia may also predispose to OME, the most common cause of hearing loss in children in the developed world.