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Updated: Jul 9, 2026
Adult Mouse Venous Hypertension Model: Common Carotid Artery to External Jugular Vein Anastomosis.
Published on: January 27, 2015
Mouse model for hereditary hemorrhagic telangiectasia has a generalized vascular abnormality
Evelyn Torsney1, Richard Charlton, Austin G Diamond
1Institute of Human Genetics, International Centre for Life, University of Newcastle upon Tyne, NE1 3BZ, UK.
Background:
Mutations in endoglin or activin like kinase-1, both involved in the endothelial transforming growth factor-beta signaling pathway, cause the autosomal dominant bleeding disorder hereditary hemorrhagic telangiectasia. We and others have reported mouse models for this disease that share the characteristic phenotype of dilated vessels and sporadic hemorrhage. The reasons for the variable phenotype in hereditary hemorrhagic telangiectasia are not understood.
Methods And Results:
After a detailed immunohistochemical analysis of 129/Ola mice, which are heterozygous for a targeted deletion in the endoglin gene, we observed intrinsic abnormalities in the vascular walls throughout the cutaneous vasculature. Postcapillary venules were dilated, and up to 70% of the vascular wall had no smooth muscle cells. The supporting layers of collagens and elastin were irregular, with thin areas, adding to the fragility of these vessels. A variable hemorrhagic phenotype was observed in which local bleeding is associated not only with fragile vessels but also with regions of inflammation.
Conclusions:
These findings have relevance to our understanding of the molecular basis of vascular integrity in a wide range of diseases.
