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Genetics, Vol. 168, 953-959, October 2004, Copyright © 2004
doi:10.1534/genetics.104.029843
Mutation Rate and Predicted Phenotypic Target Sizes in Ethylnitrosourea-Treated Mice
Dorothy Concepcion*,
Kevin L. Seburn
,
Gen Wen*,
Wayne N. Frankel and
Bruce A. Hamilton*,1
* University of California-San Diego School of Medicine, San Diego, California 92093-0644
The Jackson Laboratory, Bar Harbor, Maine 04609
1 Corresponding author: Palade Laboratories for Cellular and Molecular Medicine, UCSD School of Medicine, 9500 Gilman Dr., San Diego, CA 92093-0644.
E-mail: bah{at}ucsd.edu
Chemical mutagenesis of the mouse is ongoing in several centers around the world, with varying estimates of mutation rate and number of sites mutable to phenotype. To address these questions, we sequenced 
9.6 Mb of DNA from G1 progeny of ethylnitrosourea-treated mice in a large, broad-spectrum screen. We identified 10 mutations at eight unique sites, including six nonsynonymous coding substitutions. This calibrates the nucleotide mutation rate for two mutagenesis centers, implies significance criteria for positional cloning efforts, and provides working estimates of effective genetic target sizes for selected phenotypes.
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