Figure 6.

Genetic Synergy between Moz and Tbx1 Haploinsufficiency and Rescue of Moz Mutant Heart Defects by a Tbx1 Transgene

(A) Survival of wild-type, Moz^+/− and Tbx1^+/− single-heterozygous, and Moz^+/−Tbx1^+/− double-heterozygous mice to weaning. Note that 80% of Moz^+/−Tbx1^+/− double-heterozygous mice are not viable.

(B) Incidence of DGS-like anomalies observed in Moz^+/−Tbx1^+/− double- and single-heterozygous mice at E17.5–E18.5.

(C and D) Details of DGS-like anomalies in locations other than the heart (C) and in the heart (D) observed in the Moz^+/−Tbx1^+/− double and single heterozygotes.

(E and F) E18.5 offspring in three litters of Moz^Δ/+Tbx1-Tg by Moz^Δ/+ matings. (E) Overview and high-resolution images of VSDs in three Moz^Δ/Δ animals (arrows, as in Figure 1 and Table 1) and the rescue of the septal defects by one copy of the Tbx1-containing BAC RP23-35B9 in three Moz^Δ/ΔTbx1-Tg animals (serial images in Figure S3). (F) Summary of all 25 offspring. The septal defects observed in the four Moz^Δ/Δ were three VSDs and one aortopulmonary septal defect. Data are presented and analyzed as described in the Experimental Procedures. AbRSA, abnormal right subclavian artery including retrotracheal and abnormal origin; GVRD, great vessel wall remodeling defects, i.e., dilated in diameter and thin walled; LA, left atrium; LV, left ventricle; IAA-B, interrupted aortic arch type B; RA, right atrium; RV, right ventricle; VS, ventricular septum; VSD, ventricular septal defect. Scale bar, 445 μm in the left two panels of (E) and 185 μm in all other panels of (E).