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Ror2 knockout mouse as a model for the developmental pathology of autosomal recessive Robinow syndrome

2004; Wiley; Volume: 229; Issue: 2 Linguagem: Inglês

10.1002/dvdy.10466

1097-0177

Georg Schwabe, Britta Trepczik, Kathrin Süring, Norbert Brieske, Abigail S. Tucker, Paul T. Sharpe, Yasuhiro Minami, Stefan Mundlos,

Developmental Biology and Gene Regulation

Abstract Robinow syndrome (RS) is a human dwarfism syndrome characterized by mesomelic limb shortening, vertebral and craniofacial malformations and small external genitals. We have analyzed Ror2 ‐/‐ mice as a model for the developmental pathology of RS. Our results demonstrate that vertebral malformations in Ror2 ‐/‐ mice are due to reductions in the presomitic mesoderm and defects in somitogenesis. Mesomelic limb shortening in Ror2 ‐/‐ mice is a consequence of perturbed chondrocyte differentiation. Moreover, we show that the craniofacial phenotype is caused by a midline outgrowth defect. Ror2 expression in the genital tubercle and its reduced size in Ror2 ‐/‐ mice makes it likely that Ror2 is involved in genital development. In conclusion, our findings suggest that Ror2 is essential at multiple sites during development. The Ror2 ‐/‐ mouse provides a suitable model that may help to explain many of the underlying developmental malformations in individuals with Robinow syndrome. Developmental Dynamics 229:400–410, 2004, © 2004 Wiley‐Liss, Inc.