2006 年 68 巻 10 号 p. 1121-1124
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 Gdf5brp.