International Mammalian Genome Society

The 15th International Mouse Genome Conference (2001)


POSTER 234 - TOWARDS THE POSITIONAL CLONING OF THE LATE ONSET MOUSE DEAFNESS MODEL JUNBO

Dr. Nick Parkinson
Medical Research Council
Mouse Genome Centre
Harwell
OX11 0RD
Oxfordshire

Co-Authors: Hsun-Tien T, Hardisty R, Brooker D, Brown SDM
Institutions: UK Mouse Genome Centre and Mammalian Genetics Unit, Medical Research Council

A genome wide phenotype driven ENU mutagenesis approach was adopted by our facility to describe, among others, novel dominantly inherited single locus deafness disorders in the mouse. One such mutant Junbo (GENA 251) has become the primary focus of a positional cloning strategy aimed at describing the underlying molecular lesion. The founder BALB/c/C3HF1 Junbo mouse exhibited wildtype pinna reflex responses at P35 but failed to respond to the same stimulus when retested at P228. The use of speed backcross technology allowed the rapid development of an age-matched cohort of 120 N2 siblings whose preyer reflexes were repeatedly tested from weaning through to P250. Analysis of this resource showed the deafness phenotype to have an onset between P40 and P140 and to have a penetrance of approximately 75% on a C3H background. Gross morphological studies of the inner ear showed no evidence of cochlea, vestibular labyrinth or ossicle deformation. Affected mice were, however, shown to have effusive matter filling the middle ear cavity providing evidence that Junbo represents a single locus model of otitis media. Following initial linkage to proximal mouse chromosome 3 over 100 meioses from affected Junbo animals have been haplotyped allowing the current non-recombinant region to be reduced to 5cM. Detailed phenotype description, mapping refinement and gene candidate analyses are on going.


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