Figure 4.

Positional cloning of the Swl mutation identifies a 9 bp deletion in Dync1h1. A, Genetic linkage mapping defined D12Mit123 as the proximal flanking polymorphic marker by a recombinant frequency of 0.86% (7 of 816) and D12Mit20 as the distal flanking polymorphic marker by a recombinant frequency of 1.84% (15 of 816) based on the analysis of 816 backcross progeny. Filled and open boxes indicate the presence and absence, respectively, of the C57BL/6J allele. B, Region of mouse chromosome 12 surrounding the critical interval. Distance between markers is drawn to scale of physical distance. Among 82 known genes and expressed sequence tags within the 4.6 Mb critical interval, Dync1h1 was selected as a candidate gene for the Swl mutation. C, Genomic structure of Dync1h1. Position of 9 bp deletion in Swl mutants is indicated. D, Chromatogram shows the 9 bp deletion in exon 12 of Dync1h1 in homozygous and heterozygous Swl mice.