International Mammalian Genome Society

The 16th International Mouse Genome Conference (2002)

Oral Presentation

Monday 18 November

16:15 - 16:30 HRS


SH Cross
MRC Human Genetics Unit

Co-Authors:, 1,2) Thaung C, 1) Morgan J, 1) West K, 1) McKie L, 3) Clark BJ, 2) Brown SDM, 1) Jackson IJ
Institutions: 1) MRC Human Genetics Unit, 2) MRC Mammalian Genetics Unit, 3) Institute of Ophthalmology

We have screened for novel ENU-induced mouse mutants that are models for human eye diseases and have produced a collection of 25 mutants with a variety of eye defects. For 16 of these the gene affected has been identified and the molecular defect, in each case a single point mutation, has been found for all but one. The characterised mutations include several that are in human eye disease genes and we have mouse models of recessive retinal degeneration, Waardenburg syndrome type IIA, renal-coloboma syndrome and aniridia. Seven of these are recessive alleles of Pde6b and form an allelic series in this gene. Loss-of-function mutations in PDE6B cause recessive retinal degeneration in humans. The sequence changes in four of our mutants would be predicted to ablate function and have a similar phenotype to the mouse null allele Pde6brd1. The phenotype of the other three is less severe and they have mutations consistent with reduced function. The other 18 mutants are dominant. Of four Pax6 mutants, one has an identical mutation to that found in human patients but it produces a different phenotype in the mouse. In addition to finding mutations in genes already implicated in eye disease there are several mutants that map to genomic regions not known to contain human eye disease genes. We have identified the affected gene and underlying mutation for one of these and are currently investigating if it is mutated in human patients with eye disease.

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