Autonomous and non-cell autonomous role of cilia in structural birth defects in mice
Fig 9
Cardiac and great vessel defects with Wnt1-Cre or Tbx18-Cre deletion of Ift140.
(A–F) Both Wnt1-Cre and Tbx18-Cre driven Ift140 deletion (Ift140flox/null1, Cre+) produced only mild congenital cardiac defects. All experimental hearts displayed normal heart looping and the majority had normal ventricular (A, D) and atrial (C, F) septum anatomy. However, a small number of Wnt1-Cre and Tbx18-Cre experimental animals displayed perimembranous ventricular septal defects (arrowheads in B, E). (G) Wnt1-Cre driven Ift140 deletion caused defects in great artery patterning including interrupted aorta (arrows in G), with or without the development of a long hypoplastic collateral vessel linking the left carotid artery and left subclavian artery (arrowheads in G). The development of anomalous right subclavian arteries was common in Wnt1-Cre experimental embryos (Ift140flox/null1, Wnt1-Cre). These arose from either the pulmonary trunk adjacent to the pulmonary arteries (§), as a vascular sling arising from the descending aorta and wrapping behind the trachea (‡), or as a vascular ring with attachments to both the pulmonary trunk and descending aorta (*). A: aorta; P: pulmonary trunk; LV: left ventricle; RV: right ventricle; LA: left atria; RA: right atria; T: trachea; RCA: right carotid artery; LCA: left carotid artery; LSA: left subclavian artery; RSA: right subclavian artery; dAo: descending aorta; RPA: right pulmonary artery; LPA: left pulmonary artery; T: trachea. All scales bars = 0.5 mm.