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Allele : Gdf5<Rgsc451> growth differentiation factor 5; RIKEN Genomic Sciences Center (GSC), 451

Primary Identifier  MGI:3699319 Allele Type  Chemically induced (ENU)
Attribute String  Dominant negative Gene  Gdf5
Inheritance Mode  Semidominant Strain of Origin  C57BL/6JJcl
Is Recombinase  false Is Wild Type  false
Project Collection  RIKEN GSC ENU Project
molecularNote  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.
  • mutations:
  • Single point mutation
  • synonyms:
  • M100451,
  • M100451
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

2 Carried By

Trail: Allele

0 Driven By

6 Publication categories

Trail: Allele