Expression of mutant TIE2 p.L914F during mouse development causes embryonic lethality and defects in vascular remodeling.

ABSTRACT:

Background

Sporadic venous malformation (VM) is associated with the hyperactivating p.L914F mutation in TIE2, a receptor tyrosine kinase essential for vascular development. This mutation is not found in hereditary VM, suggesting incompatibility with life when expressed during early vascular development. Therefore, we utilized a novel genetic mouse model that expresses TIE2 p.L914F to determine the phenotypical effects of this mutation during development.

Results

B6-Tg(Rosa26-TIE2 ^L914F ) ^EBos ( TIE2 ^L914F ) mice were generated and then validated for the presence of the transgene. The constitutive endothelial-specific Tie2-Cre line was used to activate expression of the mutant gene during early embryonic development. Ti

SUBMITTER: Bischoff LJ 

PROVIDER: S-EPMC12324181 | biostudies-literature | 2025 Jul

REPOSITORIES: biostudies-literature