RGD Reference Report - Ror2 knockout mouse as a model for the developmental pathology of autosomal recessive Robinow syndrome. - Rat Genome Database

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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.
RGD ID: 11537347
Pubmed: PMID:14745966   (View Abstract at PubMed)
DOI: DOI:10.1002/dvdy.10466   (Journal Full-text)

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.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
autosomal recessive Robinow syndrome  ISORor2 (Mus musculus)11537347; 11537347 RGD 
autosomal recessive Robinow syndrome  IMP 11537347 RGD 

Objects Annotated

Genes (Rattus norvegicus)
Ror2  (receptor tyrosine kinase-like orphan receptor 2)

Genes (Mus musculus)
Ror2  (receptor tyrosine kinase-like orphan receptor 2)

Genes (Homo sapiens)
ROR2  (receptor tyrosine kinase like orphan receptor 2)


Additional Information