Patterns & Phenotypes
Ror2 knockout mouse as a model for the developmental pathology of autosomal recessive Robinow syndrome
Article first published online: 9 JAN 2004
Copyright © 2004 Wiley-Liss, Inc.
Volume 229, Issue 2, pages 400–410, February 2004
How to Cite
Schwabe, G. C., Trepczik, B., Süring, K., Brieske, N., Tucker, A. S., Sharpe, P. T., Minami, Y. and Mundlos, S. (2004), Ror2 knockout mouse as a model for the developmental pathology of autosomal recessive Robinow syndrome. Dev. Dyn., 229: 400–410. doi: 10.1002/dvdy.10466
- Issue published online: 20 JAN 2004
- Article first published online: 9 JAN 2004
- Manuscript Accepted: 23 SEP 2003
- Manuscript Revised: 16 SEP 2003
- Manuscript Received: 15 AUG 2003
- Deutsche Forschungsgemeinschaft
- Robinow syndrome;
- development of limb;
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.