Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

Symbol:	Gdf5Rgsc451
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:	Gdf5Rgsc451 page

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

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

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

8 anatomical structure(s)

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:	27 strains or lines available

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)