Haploinsufficiency of the murine Col3a1 locus causes aortic dissection: a novel model of the vascular type of Ehlers-Danlos syndrome

Lee B Smith; Patrick W F Hadoke; Emma Dyer; Martin A Denvir; David Brownstein; Eileen Miller; Nancy Nelson; Sara Wells; Michael Cheeseman; Andy Greenfield

doi:10.1093/cvr/cvq356

Haploinsufficiency of the murine Col3a1 locus causes aortic dissection: a novel model of the vascular type of Ehlers-Danlos syndrome

Lee B Smith, Patrick W F Hadoke, Emma Dyer, Martin A Denvir, David Brownstein, Eileen Miller, Nancy Nelson, Sara Wells, Michael Cheeseman, Andy Greenfield

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Abstract / Description of output

The vascular type of Ehlers-Danlos syndrome (EDS IV) is an autosomal-dominant disorder characterized by thin translucent skin and extensive bruising. Patients with EDS IV have reduced life expectancy (median 45-50 years) due to spontaneous rupture of arteries (particularly large arteries) or bowel. EDS IV results from mutation of the COL3A1 gene, which encodes the pro-α(1) chains of type III collagen that is secreted into the extracellular matrix, e.g. by smooth muscle cells. A mouse model of EDS IV produced by targeted ablation of Col3a1 has been of limited use as only 10% of homozygous animals survive to adulthood, whereas heterozygous animals do not die from arterial rupture. We report a novel, exploitable model of EDS IV in a spontaneously generated mouse line.

Original language	English
Pages (from-to)	182-90
Number of pages	9
Journal	Cardiovascular Research
Volume	90
Issue number	1
DOIs	https://doi.org/10.1093/cvr/cvq356
Publication status	Published - 2011

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10.1093/cvr/cvq356

Haploinsufficiency of the murine Col3a1 locus causes aortic dissection: a novel model of the vascular type of Ehlers–Danlos syndrome
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http://cardiovascres.oxfordjournals.org/content/90/1/182

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AU - Dyer, Emma

AU - Denvir, Martin A

AU - Brownstein, David

AU - Miller, Eileen

AU - Nelson, Nancy

AU - Wells, Sara

AU - Cheeseman, Michael

AU - Greenfield, Andy

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Haploinsufficiency of the murine Col3a1 locus causes aortic dissection: a novel model of the vascular type of Ehlers-Danlos syndrome

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