Fig. 9. Whole-mount (A-D) and section (E-H) analysis reveals that mutation of the
Hox site results in activation of the enhancer outside the pro-valve
endocardial cells. Activity of the mutated enhancer is observed in umbilical
cord (uc), intersomitic artery (isa) (A) and the head vasculature (C).
Sectional analysis shows lacZ expression in the endothelial cells of
head vasculature (inset in C), ductus venous of E12.5 (F, arrow) and E11.5
embryos (H, arrowhead in inset). Within the heart, aberrant enhancer activity
was observed in the endocardial cells of the trabeculated ventricular outlet
in E12.5 (E, arrowhead in the inset) and E11.5 hearts (G, marked by an
asterisk), and sinus venous valves (G, arrowhead). The dysregulated enhancer
activity was also observed in the cushion mesenchymal cells (E, inset).
Activity of the mutated enhancer appeared to be increased in the pro-valve
endocardial cells (B and D, arrowheads). (I) A table summarizes transient
transgenic experiments with the mutated constructs. TG, transgenic embryos;
EC, endocardial cell expression; ET, ectopic expression.