Version: 8.0.0
Date: Tue Jan 28 2025
Gdf5Rgsc451
MGI:3699319
Allele of Gdf5
Mus musculus
SummaryTransgenic ConstructsGenomic Variant InformationVariant Molecular ConsequencesPhenotypesDisease Associations
Allele/Variant

Gdf5Rgsc451

Species
Mus musculus
Symbol
Gdf5Rgsc451
Category
allele
Allele of gene
Gdf5
Transgenic Constructs
None
Synonyms
  • M100451
Description
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.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

No data available

Phenotypes

Phenotype
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    Disease Associations

    Association
    Disease Qualifier
    Disease
    Annotation details
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