Unmet Need:
Vascular Ehlers-Danlos syndrome (vEDS) is a rare genetic connective tissue disorder. Patients with vEDS present with thin, translucent skin, easy bruising, and a characteristic facial appearance. Most critically, they are at risk for spontaneous rupture of the major arteries, hollow organs, and gravid uterus. Preclinical investigation of vEDS has been severely restricted by the lack of animal models that recapitulate the vascular pathology or molecular mechanism of disease. There is a strong need for biological models of disease that facilitate the development of interventional therapeutics.
Technology Overview:
Johns Hopkins researchers generated a mouse Vascular Ehlers-Danlos syndrome (vEDS). Col3a1G209S mice carry a glycine to serine (G209S) substitution at the beginning of the triple helical collagenous domain of the mouse Col3a1 gene. This mutation is analogous to a one found in human patients. Heterozygotes recapitulate vEDS vascular phenotypes with sudden death due to spontaneous aortic rupture at an average of 400 days of age. There is also an increased risk of vascular rupture with pregnancy. The mice have thin skin that tears easily and have poor wound healing. Homozygotes are not viable.
Stage of Development:
Pre-clinical models are available from the Jackson Laboratory.
• Col3a1G209S heterozygous mice (Stock No. 036931).
Publication:
Bowen et al., JCI, 130(2):686-698., 2020
