Gdf5Rgsc451 Mouse

RIKEN BRC September 2007
Mouse of the Month


Gdf5Rgsc451 Mouse
A model for osteoarthritis

BRC No. RBRC-GSC0080_Strain Name : M100451
Mutated gene :  Gdf5, Chr 2
Allele Symbol :  Gdf5Rgsc451
Research Application :  Mouse models for human disease
mn0709_0101 mn0709_0102
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.

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