Autonomous and non-cell autonomous role of cilia in structural birth defects in mice
Fig 8
Gross anatomical defects in embryos with Wnt1-Cre or Tbx18-Cre deletion of Ift140.
(A–C) Littermate control embryos (Ift140flox/+, Wnt1-Cre+ or Tbx18-Cre+) displayed normal embryonic anatomy. (D–F) Wnt1-Cre deletion of Ift140 resulted in a 100% penetrative phenotype characterized by significant hydrops (asterisks in D) and marked craniofacial defects including macrostomia and hypertrophied forebrain, maxillary, and mandibular regions (F). (G–M) Tbx18-Cre deletion of Ift140 resulted in severe hydrops (asterisks in G, H), but less severe cranial facial defects (H). While most embryos Tbx18-Cre experimental embryos displayed normal craniofacial anatomy (G, H), a single embryo (1/10) displayed a wide mouth phenotype reminiscent of a bird’s beak as well as marked cranial tissue hypertrophy (I). Embryos with Tbx18-Cre deletion of Ift140 displayed a number of skin protrusions located to the face (arrowhead in J) and more commonly to the abdomen (arrows in K, L). Polydactyly was also observed in Tbx18-Cre experimental embryos (M). LV: left ventricle; cx: cerebral cortex; sc: spinal cord; fb: forebrain; mb: midbrain; fl: forelimb; hl: hindlimb; e: eye; op: otic placode; hf: hair follicles; lv: liver; ln: lungs; s: stomach; i: small intestine; mx: maxillary region; md: mandibular region. All scales bars = 1 mm.