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, and, in the case of mice, models of human contiguous gene deletion syndromes. Deletions also are uniquely suited for identifying regions of the genome containing haploinsufficient or imprinted loci. Here we describe the creation of new deletions at the proximal end of mouse Chromosome (Chr) 17 by using the technique of ES cell irradiation and the extensive molecular characterization of these and previously isolated deletions that, in total, cover much of the mouse t complex. The deletions are arranged in five overlapping complexes that collectively span about 25 Mbp. Furthermore, we have integrated each of the deletion complexes with physical data from public and private mouse genome sequences, and our own genetic data, to resolve some discrepancies. These deletions will be useful for characterizing several phenomena related to the t complex and t haplotypes, including transmission ratio distortion, male infertility, and the collection of t haplotype embryonic lethal mutations. The deletions will also be useful for mapping other loci of interest on proximal Chr 17, including T-associated sex reversal (Tas) and head-tilt (het). The new deletions have thus far been used to localize the recently identified t haplolethal (Thl1) locus to an approximately 1.3-Mbp interval.Chromosomal deletions have long served as valuable genetic tools for geneticists. For Drosophila melanogaster, collections of deletion (deficiency) strains are available that collectively encompass virtually the entire genome (http://flybase.bio.indiana.edu/aberrations) and allow loss-of-function alleles to be mapped to specific subchromosomal intervals by crossing flies carrying such alleles to lines of flies bearing overlapping deficiencies. Likewise, in a classic set of experiments known as the "specific locus test," mouse geneticists used large-scale, whole-body irradiation to create sets of overlapping deletions centered around several "visible" loci (Davis and Justice 1998). These experiments allowed molecular genetic analyses of phenotypes arising from the combinatorial mating of mice carrying deletions within each complex (Dhar and Johnson 1997;Rikke et al. 1997;Roix et al. 2001;Simpson et al. 2000), and from region-specific mutagenesis with the point mutagen ENU (Justice et al. 1997; Carpenter 1993, 1999;Rinchik et al. 1990Rinchik et al. , 2002
NIH-PA Author ManuscriptNIH-PA Author Manuscript NIH-PA Author Manuscript now possible to develop deletion complexes throughout the genome and without the logistical complexities of whole-body radiation (Ramirez-Solis et al. 1995;You et al. 1997b).We previously described a chromosomal deletion complex at the proximal end of mouse Chr 17 centered at the D17Aus9 locus (You et al. 1997a;1997b). ...