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  The mutation ROR2W749X, linked to human BDB, is a recessive mutation in the mouse, causing brachydactyly, mediating patterning of joints and modeling recessive Robinow syndrome

Raz, R., Stricker, S., Elizabetta Gazzerro, E., Clor, J. L., Witte, F., Nistala, H., et al. (2008). The mutation ROR2W749X, linked to human BDB, is a recessive mutation in the mouse, causing brachydactyly, mediating patterning of joints and modeling recessive Robinow syndrome. Development, 135(9), 1713-1723. doi:10.1242/dev.015149.

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Raz, Regina, Autor
Stricker, Sigmar1, Autor           
Elizabetta Gazzerro, Elizabetta, Autor
Clor, Julie L., Autor
Witte, Florian2, Autor           
Nistala, Harakiran, Autor
Zabski, Stefanie, Autor
Pereira, Renata C., Autor
Stadmeyer, Lisa, Autor
Wang, Xiangmin, Autor
Gowen, Lori, Autor
Sleeman, Mark W., Autor
Yancopoulos, George D., Autor
Canalis, Ernesto, Autor
Mundlos, Stefan1, Autor           
Valenzuela, David M. V, Autor
Economides, Aris N., Autor
Affiliations:
1Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433557              
2Dept. of Computational Molecular Biology (Head: Martin Vingron), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433547              

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 Zusammenfassung: Mutations in ROR2 result in a spectrum of genetic disorders in humans that are classified, depending on the nature of the mutation and the clinical phenotype, as either autosomal dominant brachydactyly type B (BDB, MIM 113000) or recessive Robinow syndrome (RRS, MIM 268310). In an attempt to model BDB in mice, the mutation W749X was engineered into the mouse Ror2 gene. In contrast to the human situation, mice heterozygous for Ror2(W749FLAG) are normal and do not develop brachydactyly, whereas homozygous mice exhibit features resembling RRS. Furthermore, both Ror2(W749FLAG/W749FLAG) and a previously engineered mutant, Ror2(TMlacZ/TMlacZ), lack the P2/P3 joint. Absence of Gdf5 expression at the corresponding interzone suggests that the defect is in specification of the joint. As this phenotype is absent in mice lacking the entire Ror2 gene, it appears that specification of the P2/P3 joint is affected by ROR2 activity. Finally, Ror2(W749FLAG/W749FLAG) mice survive to adulthood and exhibit phenotypes (altered body composition, reduced male fertility) not observed in Ror2 knockout mice, presumably due to the perinatal lethality of the latter. Therefore, Ror2(W749FLAG/W749FLAG) mice represent a postnatal model for RRS, provide insight into the mechanism of joint specification, and uncover novel roles of Ror2 in the mouse.

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Sprache(n): eng - English
 Datum: 2008-03-19
 Publikationsstatus: Erschienen
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Titel: Development
Genre der Quelle: Zeitschrift
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Seiten: - Band / Heft: 135 (9) Artikelnummer: - Start- / Endseite: 1713 - 1723 Identifikator: ISSN: 0950-1991