Limb specific Acvr1-knockout during embryogenesis in mice exhibits great toe malformation as seen in Fibrodysplasia Ossificans Progressiva (FOP).

Laura HildebrandMareen Schmidt-von KeglerMaria WaltherPetra Seemann Katja Stange

Published in: Developmental dynamics : an official publication of the American Association of Anatomists (2019)

In FOP, malformation of big toes can serve as a first soft marker in diagnostics. The surprising similarities in phenotype between the described conditional knockout of Acvr1 and the FOP mouse model, indicates a natural inhibitory function of ACVR1. This represents a further step towards better understanding the role of Acvr1 and developing treatment options for FOP.

Keyphrases

mouse model
wild type
type diabetes
skeletal muscle
transcription factor
insulin resistance