Constitutive, Mosaic Expression of TIE2 p.L914F During Mouse Development Causes Venous Malformation.

mice developed massively enlarged venous/capillary vessels in various tissues, reminiscent of the VM phenotype. In this study, we show that mosaic embryonic expression of the VM-causative mutation TIE2 p.L914F causes partial embryonic lethality and the formation of VM in surviving offspring. This is a novel in vivo model of mutant TIE2-driven VM disease which illustrates that the extent of the mutational event during development will contribute to varying levels of severity in the VM phenotype.