An endothelial specific mouse model for the capillary malformation mutation Gnaq p.R183Q

Abstract excerpt

<h4>ABSTRACT</h4> Capillary malformation (CM) is a congenital, non-hereditary lesion composed of enlarged and tortuous blood vessels. CM is associated with a somatic GNAQ p.R183Q activating mutation in endothelial cells (EC). Cutaneous CMs are present in 1/300 infants and in 55-70% of CM cases soft tissue overgrowth is observed. Pharmacotherapy for CM does not exist. Here we report a conditional mouse model allow...

Topics

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• Capillaries
• Disease Models, Animal
• Endothelial Cells
• GTP-Binding Protein alpha Subunits, Gq-G11
• Mice
• Mice, Transgenic
• Mutation
• Vascular Malformations

Identifiers and source

Literature Corpus work

7fca8011-7dd3-5eae-a205-d0220720d524

DOI

10.1101/2025.03.17.643802