| First Author | Suto J | Year | 2006 |
| Journal | J Vet Med Sci | Volume | 68 |
| Issue | 10 | Pages | 1121-4 |
| PubMed ID | 17085896 | Mgi Jnum | J:124813 |
| Mgi Id | MGI:3722565 | Doi | 10.1292/jvms.68.1121 |
| Citation | Suto J (2006) Identification of mutation in the growth differentiation factor 5 (Gdf5) gene in NC-brp/brp mice. J Vet Med Sci 68(10):1121-4 |
| abstractText | 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). |
