Fig. 3. Tbx1 is required early for aortic arch patterning and later for cardiac
outflow tract (OFT) morphogenesis. (A) Aortic arch patterning defects in an
E18.5 TgCAGG-CreERTM;Tbx1flox/+ embryo exposed to TM
at E7.5. The arrowhead indicates aberrant origin of the right subclavian
artery; the arrow indicates interruption of the aortic arch, compared with
normal arrangement in a Tbx1flox/+ control littermate (B).
(C,D) Persistent truncus arteriosus (T) in an E18.5
TgCAGG-CreERTM;Tbx1flox/- embryo exposed to TM at
E8.5 (C), compared with normal anatomy in a
TgCAGG-CreERTM;Tbx1flox/+ littermate (D). (E-G)
Intracardiac ink injection of E10.5
TgCAGG-CreERTM;Tbx1flox/+ embryos exposed to TM at
E7.5 (E), E8.5 (F) and E9.5 (G). Numbers indicate the pharyngeal arch arteries
(PAAs). The 4th PAA is absent in embryos exposed to TM at E7.5 (E) and
exhibits very mild hypoplasia in embryos exposed to TM at E8.5 (F); normal
morphology is present in the embryo exposed at E9.5 (G). (H-J) Timed fate
mapping of Tbx1 expressing cells in E10.5
Tbx1mcm/+;R26R embryos exposed to TM at
E7.5 (H), E8.5 (I) and E9.5 (J) stained with X-gal; coronal sections, cranial
is upwards. Arrowheads indicate labeling of surface ectoderm, arrows indicate
labeling of endothelial cells of the 4th PAA. (K-M,K'-M') Timed
fate mapping of Tbx1-expressing cells in E12.5
Tbx1mcm/+;R26R embryos exposed to TM at E7.5
(K,K'), E8.5 (L,L'), and E9.5 (M,M') stained with X-gal;
whole-mount preparation of the heart (K-M) and coronal section through the OFT
(K'-M') at the truncal-conal transition. RSA and LSA, right and
left subclavian arteries; BT, brachiocephalic trunk; Ao, aorta; PT, pulmonary
trunk; RCA and LCA, right and left common carotid arteries; PA, pulmonary
arteries; RV and LV, right and left ventricles. Scale bars: 0.5 mm in B,D,M;
0.2 mm in G; 50 µm in J; 100 µm in M'.