1. Mks1 mutants exhibit skeletal anomalies.
Mks1mutants exhibit skeletal anomalies. (A–H). Skeletal preparations of Mks1 mutant (m/m; B,D,F,H) and littermate control (ctrl; A,C,E,G) newborn animals showed, in the mutant animal, dome-shaped skull and hypoplastic jaw (B), cleft palate (arrow, D), mal-aligned and split sternal vertebrae (arrows, F), and reduced or absent ossification of the vertebral bodies of the cervical and thoracic vertebrae (bracket, H). Arrowhead in F shows the fissure of sternal vertebrae. (I–L) Skeletal preparations showed Mks1 mutant animals with preaxial digit duplication with a triphalangeal first digit in the hind limb (arrows in K and L) and broadened thumbs in the forelimb (arrows in I and J), as well as extra carpal bone (arrowheads in K and L). ps, presphenoid; bs, basisphenoid; bo, basioccipital; LFL, left forelimb; RFL, right forelimb; LHL, left hindlimb; RHL, right hindlimb. Scale bars: 1 mm.
Cheng Cui et al. Dis. Model. Mech. 2011;4:43-56
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