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September 2007 Mouse of the Month |
Gdf5Rgsc451 Mouse
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| Mutated gene | : | Gdf5, Chr 2 |
| Allele Symbol | : | Gdf5Rgsc451 |
| Research Application | : | Mouse models for human disease |
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| 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. |
