International Mammalian Genome Society

The 14th International Mouse Genome Conference (2000)

H10. Screening for ENU-Induced Dominant Eye and Vision Mutants

Sally Cross1, Caroline Thaung1,2, Katrine West1, Karen Arnold1,2, Lisa McKie1, Pat Nolan2, Jo Peters2, Sohaila Rastan3, Jackie Hunter3, Steve Brown2, Ian Jackson1
1MRC Human Genetics Unit, Edinburgh
2MRC Mammalin Genetics Unit, Harwell
3SmithKline Beecham Pharmaceuticals, Harlow.

There are about 150 genes in which mouse mutations affect vision or eye development, many of these are associated with other defects and ~25% result in cataracts. In order to identify additional genes important for eye development we have been screening for novel dominant eye and vision mutants in the mouse as part of the major ENU mutagenesis programme being carried out at Harwell. 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 a phenotype-driven approach where no assumption is made about gene function we hope to identify novel genes and pathways. We have screened over 6000 potential mutant mice for vision defects using an optokinetic drum and have physically examined the eyes of about 6000 using both a slit-lamp biomicroscope to detect anterior segment defects and an indirect ophthalmoscope to detect retinal defects. The screen will also detect new mutant alleles of the recessive mutation Pdebrd1. To date we have found about 40 mutant phenotypes, affecting all parts of the eye, of which 15 are inherited, 14 were not inherited and the rest are still undergoing inheritence testing. Including those still undergoing testing we have at least 3 probable mutant alleles of Pax6, and up to 8 alleles of Pdeb. Amongst the others are novel mutations with specific effects on the cornea, the iris or the retina and others that affect multiple systems.


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