Gdf5^Rgsc451
Chemically induced Allele Detail

Summary

• Symbol: Gdf5^Rgsc451
• Name: growth differentiation factor 5; RIKEN Genomic Sciences Center (GSC), 451
• MGI ID: MGI:3699319
• Synonyms: M100451
• Gene: Gdf5 Location: Chr2:155782943-155787204 bp, - strand Genetic Position: Chr2, 77.26 cM
• Alliance: Gdf5^Rgsc451 page

Mutation origin

• Strain of Origin: C57BL/6JJcl
• Project Collection: RIKEN GSC ENU Project

Mutation description

• Allele Type: Chemically induced (ENU) (Dominant negative)
• Mutation: Single point mutation
• Mutation details: 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. (J:125122)
• Inheritance: Semidominant

Disease models

Expression

In Structures Affected by this Mutation:

8 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Gdf5 Mutation: 32 strains or lines available

References

• Original: J:125122 Masuya H, et al., A novel dominant-negative mutation in Gdf5 generated by ENU mutagenesis impairs joint formation and causes osteoarthritis in mice. Hum Mol Genet. 2007 Oct 1;16(19):2366-75
• All: 4 reference(s)