Deficiency of <i>pitx2</i> results in craniofacial and ocular defects.
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Abstract
<p><b>A–H</b>. <i>pitx2</i> knockdown disrupts development of the pharyngeal arches. Lateral (<b>A, B, E, F</b>) and ventral (<b>C, D, G, H</b>) views of 72-hpf (<b>A–D</b>) and 120-hpf (<b>E–H</b>) larvae stained with Alcian blue. Numerous defects in the development of the lower jaw (anterior arches) and ceratobranchial (posterior) arches can be observed. <b>I–T</b>. <i>pitx2</i> knockdown disrupts eye development. Representative images of histological sections of 72-hpf (<b>I,J,O,P</b>), 120-hpf (<b>K,L,Q,R</b>) and 8-dpf (<b>M,N,S,T</b>) control and <i>pitx2<sup>ex4/5</sup></i> morphants; head sections at the optic nerve level are shown (<b>I–N</b>) as well as high magnification images for the eye (<b>O–T</b>). Please note the accumulation of cells in the anterior segment in 72-hpf <i>pitx2<sup>ex4/5</sup></i> morphant embryos (arrowhead in <b>P</b>) and abnormal eye size/shape in 120-hpf and 8-dpf morphants (arrowheads in <b>R</b>, <b>T</b>). Abbreviations: <b>A–H</b>- bb,basibranchial; bh, basihyal; cb, ceratobranchial (P3–P7); ch, ceratohyal (P2); ep, ethmoid plate; hs, hyosympletic (P2); m, Meckel's cartilage (P1); pq, palatoquadrate (P1); <b>I–T</b>- ase, anterior segment of the eye; le, lens; on, optic nerve; re- retina.</p