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

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http://pubman.mpdl.mpg.de/cone/persons/resource/persons50540

Schwabe,  Georg C.
Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society;

Trepczik,  Britta
Max Planck Society;

Süring,  Kathrin
Max Planck Society;

http://pubman.mpdl.mpg.de/cone/persons/resource/persons50112

Brieske,  Norbert
Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society;

http://pubman.mpdl.mpg.de/cone/persons/resource/persons50437

Mundlos,  Stefan
Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society;

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Citation

Schwabe, G. C., Trepczik, B., Süring, K., Brieske, N., Tucker, A. S., Sharpe, P. T., et al. (2004). Ror2 knockout mouse as a model for the developmental pathology of autosomal recessive Robinow syndrome. Developmental Dynamics, 229(2), 400-410. doi:10.1002/dvdy.10466.


Cite as: http://hdl.handle.net/11858/00-001M-0000-0010-88EB-0
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.