International Mammalian Genome Society

The 14th International Mouse Genome Conference (2000)

H12. Saturation Mutagenesis for Dominant Eye Mutations in the Mouse: The Crystallin Genes

Jack Favor1, Angelika Neuhäuser-Klaus1, Mary Lyon2 and Rodica Sandulache1
1 GSF-Institute of Mammalian Genetics, Neuherberg, Germany;
MRC Mammalian Genetics Unit, Harwell, UK

An extensive series of mutagenesis experiments employing a wide variety of chemical mutagens or radiation was conducted and generated a large collection of dominant eye mutations in the mouse. A major question is if this collection of mutations has saturated those genes which, when mutated, express a dominant eye defect. To assess this we have compared our mapping and mutant analysis results with the crystallin genes, which are principle components of the lens and excellent candidate genes for genetic eye defects. There are a total of 15 crystallin genes distributed among 7 autosomes of the mouse (Chr. 1, 5, 7, 9, 11, 16, 17), including 2 gene clusters. Of the 194 mutations maintained for analysis, 109 mutations have been mapped to date to 35 distinct chromosome regions. 34 mutations map to the vicinity of crystallin genes. Of the 7 autosomes on which crystallin genes are located 5 have been hit with our mapped mutations: 25 to Chr. 1, 4 to Chr. 5, 1 to Chr. 11, 2 to Chr. 16 and 2 to Chr. 17. We have already confirmed molecularly mutations of the Crybb3 and Crya1 genes and such molecular analyses of the extensive group of mapped mutations will continue. With approximately one-half of the entire mutation collection mapped the fact that 34 mutations map to 5 of the 7 chromosome regions containing the crystallin genes suggests that our collection may approach saturation, if we assume that the crystallin genes are representative for all genes functioning in eye developoment and physiology.

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