Fig. 6.

Reporter gene expression in the modified configurations. (A–D) Scheme of the genetic configurations (Left) along with the expression profiles of the associated LacZ reporter genes (Right). The parental alleles used to produce the duplications are associated with different LacZ insertions within the regulatory landscape (A and B). Although the expression of these reporter transgenes slightly varies with insertion sites, with specific domains in the posterior mesoderm, the proximal limb (presumptive forearm), and the CNS, they all display the same expression pattern in developing digits. (C and D) The Dup(Nsi-SB) and Dup(Nsi-Atf2) rearrangements are associated with a distinct pattern in the CNS, but they do not display an altered digit expression compared with parental configurations. (E) RT-qPCR analysis of LacZ expression levels in E12.5 developing digits of embryos heterozygous for the duplicated configurations indicated similar RNA levels in both duplications, although only the Dup(Nsi-SB) elicited a phenotype. Error bars indicate SD (n = 4).