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Gdf5Rgsc451
Chemically induced Allele Detail
Nomenclature
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
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 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
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 8 anatomical structures
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:  20 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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
02/18/2020
MGI 6.14
The Jackson Laboratory