International Mammalian Genome Society

The 16th International Mouse Genome Conference (2002)


D Bergstrom
The Jackson Laboratory

1) Munroe R, 1) Bergstrom R, 2) Browning V, 3) You Y, 1) Schimenti J
1) The Jackson Laboratory, 2) Univ. of Wisconsin-Madison, 3) Oak Ridge National Laboratory

Chromosome deletion complexes in model organisms serve as valuable genetic tools for the functional and physical annotation of complex genomes.  Among their many roles, deletions can serve as mapping tools for simple or quantitative trait loci (QTLs), genetic reagents for regional mutagenesis experiments, or in the case of mice, provide models of human contiguous gene deletion syndromes.  They are also uniquely suited for identifying regions of the genome containing haploinsufficient or imprinted loci.  Using the technique of ES cell irradiation, we have created and characterized a comprehensive set of deletions at the proximal end of mouse Chromosome 17 that, in total, cover much of the mouse t complex.  The deletions are arranged in 5 overlapping complexes that collectively span 25-30 cM.  Furthermore, we integrate molecular data from each of the deletion complexes with physical data from the public mouse genome BAC contig and Celera's mouse genome sequence, using the deletions as mapping reagents to resolve some discrepancies.  We have used these deletions both to map existing mutant phenotypes (the vestibular mutant head-tilt), and to uncover new phenotypes (exencephaly/edema). In addition, these deletions will be useful for characterizing several phenomena related to the t complex. In general, radiation-induced deletions will serve as valuable genetic tools for investigating the functional content of complex genomes.

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