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

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.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-88EB-0 Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-88EC-E
Genre: Journal Article
Alternative Title : Dev Dyn

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 Creators:
Schwabe, Georg C.1, Author              
Trepczik, Britta2, Author
Süring, Kathrin2, Author
Brieske, Norbert1, Author              
Tucker, Abigail S., Author
Sharpe, Paul T., Author
Minami, Yasuhiro, Author
Mundlos, Stefan1, Author              
Affiliations:
1Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433557              
2Max Planck Society, ou_persistent13              

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Free keywords: Ror2; Robinow syndrome; somitogenesis; development of limb; craniofacies; genital
 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.

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Language(s): eng - English
 Dates: 2004-02
 Publication Status: Published in print
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Method: -
 Identifiers: eDoc: 228850
DOI: 10.1002/dvdy.10466
 Degree: -

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Title: Developmental Dynamics
  Alternative Title : Dev Dyn
Source Genre: Journal
 Creator(s):
Affiliations:
Publ. Info: -
Pages: - Volume / Issue: 229 (2) Sequence Number: - Start / End Page: 400 - 410 Identifier: ISSN: 1058-8388