title: Identification of mutation in the growth differentiation factor 5 (Gdf5) gene in NC-brp/brp mice.
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).
authors.affiliation: Division of Animal Sciences, National Institute of Agrobiological Sciences, Ibaraki, Japan.
authors.forename: Jun-ichi
authors.initials: J
authors.lastname: Suto
mesh_terms: D000818:Animals; D001483:Base Sequence; D001835:Body Weight / Q000235:genetics; D019485:Bone Morphogenetic Proteins / Q000737:chemistry / Q000235:genetics*; D005260:Female; D016368:Frameshift Mutation; D055428:Growth Differentiation Factor 5; D017880:Limb Deformities, Congenital / Q000235:genetics*; D008098:Litter Size / Q000235:genetics; D008297:Male; D051379:Mice; D008810:Mice, Inbred C57BL; D008817:Mice, Mutant Strains / Q000235:genetics*; D008969:Molecular Sequence Data; D012313:RNA / Q000737:chemistry / Q000235:genetics; D020133:Reverse Transcriptase Polymerase Chain Reaction
chemical_list: D019485:Bone Morphogenetic Proteins; C525894:Gdf5 protein, mouse; D055428:Growth Differentiation Factor 5; D012313:RNA