Article
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 (Cambridge, England) - 1 May 2008
Raz Regina, Stricker Sigmar, Gazzerro Elizabetta, Clor Julie L, Witte Florian, Nistala Harakiran, Zabski Stefanie, Pereira Renata C, Stadmeyer Lisa, Wang Xiangmin, Gowen Lori, Sleeman Mark W, Yancopoulos George D, Canalis Ernesto, Mundlos Stefan, Valenzuela David M, Economides Aris N
Abstract excerpt
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...
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