International Mammalian Genome Society

The 15th International Mouse Genome Conference (2001)


Dr Sally Cross
MRC Human Genetics Unit
Western General Hospital
Crewe Road

Co-Authors: 1,2)Thaung C, 1)West K, 3) Clark B, 1,2)Arnold K, 1)McKie K, 1)Morgan J, 2)Nolan P, 2)Peters J, 4)Hunter J, 2)Brown S, 1)Jackson I,
Institutions: 1)MRC Human Genetics Unit, 2)MRC Harwell, 3) Institute of Ophthalmology, 4)GlaxoSmithKline

Identifying the genes underlying eye phenotype mutations

We have been screening for novel eye and vision ENU-induced mutants in the mouse. We chose to concentrate on the eye because it is a tractable developmental system and because of the value of creating new models of human eye disease. Using such a phenotype-driven approach where no assumption is made about gene function we expect to identify novel genes and pathways. We have screened over 6500 potential mutant mice for vision defects using a visual tracking drum and have physically examined the eyes of about 6000 using a slit-lamp biomicroscope to detect anterior segment defects and an indirect ophthalmoscope to detect retinal defects. To date we have found 48 mutant phenotypes of which 25 are inherited and 23 were not. The screen has yielded dominant mutations and new recessive mutant alleles of the Pde6b gene. The inherited mutations affect all parts of the eye. Of the genes mapped so far, some are located near candidate genes. We have probable mutant alleles of Pax6 (four), Mitf (two), Egfr (one) and Pde6b (seven). Amongst the others are novel mutations with specific effects on the cornea, the iris or the retina and others that affect multiple systems. Strategies to identify candidate genes and elucidate the underlying mutations will be discussed.

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