|Mutated gene||:||Gdf5, Chr 2|
|Research Application||:||Mouse models for human disease|
|Homozygote of Gdf5Rgsc451||OA phenotype in the elbow joints of homozygotes with clacking of cartliage (arrow heads) and abnormal cell size (arrows). ra, radius ; hu, humerus.|
Osteoarthritis (OA) is the most common form of joint disorder, and is characterized by the degeneration of articular cartilage. A new Gdf5 allele derived from a large scale ENU mutagenesis screen, Gdf5Rgsc451, carries an amino acid substitution (W408R) which is a dominant negative form of GDF5 protein. The mutation is semidominant, showing brachypodism and ankylosis in heterozygotes, and much more severe brachypodism, ankylosis of the knee joint, and malformation with early-onset (8 weeks of age) OA of the elbow joint in homozygotes.
|Depositor||:||Mouse Functional Genomics Research Group, RIKEN Genomic Sciences Center|
|Reference||:||Hum Mol Genet (2007) 16(19):2366-75.|