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

Authors: Schwabe, GC  Trepczik, B  Suring, K  Brieske, N  Tucker, AS  Sharpe, PT  Minami, Y  Mundlos, S 
Citation: Schwabe GC, etal., Dev Dyn. 2004 Feb;229(2):400-10.
Pubmed: (View Article at PubMed) PMID:14745966
DOI: Full-text: DOI:10.1002/dvdy.10466

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.


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RGD Object Information
RGD ID: 11537347
Created: 2016-09-30
Species: All species
Last Modified: 2016-09-30
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.