ENU-induced missense mutation in the C-propeptide coding region of Col2a1 creates a mouse model of platyspondylic lethal skeletal dysplasia, Torrance type

@article{Furuichi2011ENUinducedMM,
  title={ENU-induced missense mutation in the C-propeptide coding region of Col2a1 creates a mouse model of platyspondylic lethal skeletal dysplasia, Torrance type},
  author={Tatsuya Furuichi and Hiroshi Masuya and Tomohiko Murakami and Keiichiro Nishida and Gen Nishimura and Tomohiro Suzuki and Kazunori Imaizumi and Takashi Kudo and Kiyoshi Ohkawa and Shigeharu Wakana and Shiro Ikegawa},
  journal={Mammalian Genome},
  year={2011},
  volume={22},
  pages={318-328}
}
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 identified a novel Col2a1 missense mutation—c.44406A>C (p.D1469A)—produced by large… CONTINUE READING

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