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Chemically induced Allele Detail
Symbol: Gdf5Rgsc451
Name: growth differentiation factor 5; RIKEN Genomic Sciences Center (GSC), 451
MGI ID: MGI:3699319
Synonyms: M100451
Gene: Gdf5  Location: Chr2:155941023-155945367 bp, - strand  Genetic Position: Chr2, 77.26 cM
Strain of Origin:  C57BL/6JJcl
Project Collection: RIKEN GSC ENU Project
Allele Type:    Chemically induced (ENU) (Dominant negative)
Mutation:    Single point mutation
Mutation detailsA 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 for all genotypes (concatenated display).
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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:  18 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:  3 reference(s)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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