Primary Identifier | MGI:3699319 | Allele Type | Chemically induced (ENU) |
Attribute String | Dominant negative | Gene | Gdf5 |
Inheritance Mode | Semidominant | Strain of Origin | C57BL/6JJcl |
Is Recombinase | false | Is Wild Type | false |
Project Collection | RIKEN GSC ENU Project |
molecularNote | A T-to-A transversion at nucleotide position 1536, in exon 2, results in substitution of arginine for tryptophan at amino acid position 480 (W408R) in a highly conserved region of the active signaling domain of the growth differentiation factor 5 protein. The mutant protein is secreted and dimerizes normally, but it inhibits the function of the wild-type protein in a dominant negative fashion. |