| First Author | Savontaus M | Year | 1996 |
| Journal | Am J Pathol | Volume | 149 |
| Issue | 6 | Pages | 2169-82 |
| PubMed ID | 8952549 | Mgi Jnum | J:37148 |
| Mgi Id | MGI:84576 | Citation | Savontaus M, et al. (1996) Retarded skeletal development in transgenic mice with a type II collagen mutation. Am J Pathol 149(6):2169-82 |
| abstractText | Transgenic mice harboring specific mutations provide a tool for systematic studies on the effects of dominant mutations on embryonic development and growth. In the present study, several different techniques were employed to follow the development of growth abnormalities and other phenotypic consequences in the mouse fitters front matings of heterozygous Dell mice carrying sir copies of a mouse type II collagen transgene with a small engineered deletion mutation. Skeletal staining of complete litters with alcian blue/alizarin red S revealed that the onset of chondrogenesis and subsequent endochondrial ossification were delayed in heterozygous and homozygous Dell embryos. The lengths, widths, and shapes of long bones were all affected. Histological and in situ hybridization analyses revealed several types of abnormalities in the epiphyseal growth plates of homozygous Dell embryos including disorganization of growth plate architecture, abnormal appositional growth activity, an increase in the number of hypertrophic chondrocytes, a deficiency in the formation of metaphyseal cancellous bone, and development of necrotic areas in the epiphyseal heads. Many of these findings parallel those seen in human chondrodysplasias. The basic information obtained on the effects of a specific deletion mutation in the type II collagen gene on the development and growth of the transgenic embryos provides a background for testing the efficacy of novel therapeutic strategies for prevention of such growth abnormalities. |
