Constitutive, mosaic expression of TIE2 p.L914F during mouse development causes formation of venous malformation

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 a VM phenotype. This a novel <i>in vivo</i> model of mutant TIE2-driven VM disease and it illustrates that the extent of the mutational event during development will contribute to varying levels of severity in the VM phenotype.

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Publication Details

Journal
bioRxiv (Cold Spring Harbor Laboratory)
Published
2026-01-28
DOI
https://doi.org/10.64898/2026.01.27.702061
Primary Topic
Vascular Malformations and Hemangiomas
Type
article
Field-Weighted Citation Impact
0.00

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article

Constitutive, mosaic expression of TIE2 p.L914F during mouse development causes formation of venous malformation

Sandra Schrenk, Chhiring Sherpa, Lindsay J. Bischoff, Elisa Boscolo
bioRxiv (Cold Spring Harbor Laboratory)
Vascular Malformations and Hemangiomas
article

Constitutive, mosaic expression of TIE2 p.L914F during mouse development causes formation of venous malformation

Sandra Schrenk, Chhiring Sherpa, Lindsay J. Bischoff, Elisa Boscolo
article en

Abstract

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 a VM phenotype. This a novel <i>in vivo</i> model of mutant TIE2-driven VM disease and it illustrates that the extent of the mutational event during development will contribute to varying levels of severity in the VM phenotype.

bioRxiv (Cold Spring Harbor Laboratory)
Cincinnati Children's Hospital Medical Center (US), University of Cincinnati Medical Center (US)
American Heart Association, Cincinnati Children's Hospital Medical Center, National Institutes of Health, National Heart, Lung, and Blood Institute
Good health and well-being
Openalex Percentile: Top 73%
Vascular Malformations and Hemangiomas
DOIOpen Access PDFOpenAlex
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