An Acvr1 R206H knock-in mouse has fibrodysplasia ossificans progressiva.

@article{Chakkalakal2012AnAR,
  title={An Acvr1 R206H knock-in mouse has fibrodysplasia ossificans progressiva.},
  author={Salin A Chakkalakal and Deyu Zhang and Andria L. Culbert and Michael Richard Convente and Robert J. Caron and Alexander C. Wright and Andrew D. A. Maidment and Frederick S. Kaplan and Eileen M Shore},
  journal={Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research},
  year={2012},
  volume={27 8},
  pages={
          1746-56
        }
}
Fibrodysplasia ossificans progressiva (FOP; MIM #135100) is a debilitating genetic disorder of dysregulated cellular differentiation characterized by malformation of the great toes during embryonic skeletal development and by progressive heterotopic endochondral ossification postnatally. Patients with these classic clinical features of FOP have the identical heterozygous single nucleotide substitution (c.617G > A; R206H) in the gene encoding ACVR1/ALK2, a bone morphogenetic protein (BMP) type I… CONTINUE READING
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