Ror2 knockout mouse as a model for the developmental pathology of autosomal recessive Robinow syndrome
✍ Scribed by Georg C. Schwabe; Britta Trepczik; Kathrin Süring; Norbert Brieske; Abigail S. Tucker; Paul T. Sharpe; Yasuhiro Minami; Stefan Mundlos
- Publisher
- John Wiley and Sons
- Year
- 2004
- Tongue
- English
- Weight
- 469 KB
- Volume
- 229
- Category
- Article
- ISSN
- 1058-8388
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✦ Synopsis
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.