Article
ENU-induced missense mutation in the C-propeptide coding region of Col2a1 creates a mouse model of platyspondylic lethal skeletal dysplasia, Torrance type.
Mammalian genome : official journal of the International Mammalian Genome Society - 1 Jun 2011
Furuichi Tatsuya, Masuya Hiroshi, Murakami Tomohiko, Nishida Keiichiro, Nishimura Gen, Suzuki Tomohiro, Imaizumi Kazunori, Kudo Takashi, Ohkawa Kiyoshi, Wakana Shigeharu, Ikegawa Shiro
Abstract excerpt
The COL2A1 gene encodes the α1(II) chain of the homotrimeric type II collagen, the most abundant protein in cartilage. In humans, COL2A1 mutations create many clinical phenotypes collectively termed type II collagenopathies; however, the genetic basis of the phenotypic diversity is not well elucidated. Therefore, animal models corresponding to multiple type II collagenopathies are required. In this study we...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.