Identification of mutation in the growth differentiation factor 5 (Gdf5) gene in NC-brp/brp mice

J Vet Med Sci. 2006 Oct;68(10):1121-4. doi: 10.1292/jvms.68.1121.

Abstract

A brachypodism (brp) mutation arose spontaneously in the inbred NC mouse strain, producing a phenotype similar to that caused by bp mutation; therefore, it is strongly suggested that brp and bp are allelic. A series of bp mutations are due to defects in the growth differentiation factor 5 (Gdf5) gene. Nucleotide sequence analysis on the Gdf5 gene in NC-brp/brp mice revealed that an irregular insertion of a unit ;GGCAGCC' in exon 2 caused a frame shift leading to a premature stop codon. In addition to the known physiologic roles of brp, I found that brp significantly reduced the litter size. The brp is a novel mutant allele at the Gdf5 gene locus; I would like to name this allele Gdf5(brp).

MeSH terms

  • Animals
  • Base Sequence
  • Body Weight / genetics
  • Bone Morphogenetic Proteins / chemistry
  • Bone Morphogenetic Proteins / genetics*
  • Female
  • Frameshift Mutation
  • Growth Differentiation Factor 5
  • Limb Deformities, Congenital / genetics*
  • Litter Size / genetics
  • Male
  • Mice
  • Mice, Inbred C57BL
  • Mice, Mutant Strains / genetics*
  • Molecular Sequence Data
  • RNA / chemistry
  • RNA / genetics
  • Reverse Transcriptase Polymerase Chain Reaction

Substances

  • Bone Morphogenetic Proteins
  • Gdf5 protein, mouse
  • Growth Differentiation Factor 5
  • RNA