Ror2knockout mouse as a model for the developmental pathology of autosomal recessive Robinow syndrome

Autor:	Georg C. Schwabe, Norbert Brieske, Abigail S. Tucker, Kathrin Süring, Britta Trepczik, Stefan Mundlos, Paul T. Sharpe, Yasuhiro Minami
Rok vydání:	2004
Předmět:	medicine.medical_specialty Dwarfism ROR2 Biology medicine.disease Robinow syndrome body regions Endocrinology Somitogenesis Internal medicine Knockout mouse medicine Paraxial mesoderm Craniofacial Genital tubercle Developmental Biology
Zdroj:	Developmental Dynamics. 229:400-410
ISSN:	1058-8388
DOI:	10.1002/dvdy.10466
Popis:	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.
Databáze:	OpenAIRE
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