Shh^Dsh

The short digits mutation was shown to be allelic to Shh mutations by an alleleism test (Stefan Mundlos, unpublished, see also J:67151). This mutation is an inversion comprising 11.7 Mb. The distal breakpoint is 13.298 kb upstream of Shh, separating the coding sequence from several putative regulatory elements. The inversion results in dysregulated expression of Shh resulting in the mutant phenotype. (J:97323)