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Publication : An activating mutation in the PDGF receptor alpha results in embryonic lethality caused by malformation of the vascular system.

First Author  Kurth P Year  2009
Journal  Dev Dyn Volume  238
Issue  5 Pages  1064-72
PubMed ID  19334281 Mgi Jnum  J:145610
Mgi Id  MGI:3835566 Doi  10.1002/dvdy.21939
Citation  Kurth P, et al. (2009) An activating mutation in the PDGF receptor alpha results in embryonic lethality caused by malformation of the vascular system. Dev Dyn 238(5):1064-72
abstractText  Platelet-derived growth factors (PDGF) and their receptors control cell proliferation, survival, and migration. To test the influence of an oncogenic mutation to embryonic development, a transgenic mouse line expressing PDGFRalpha (D842V) was established and analyzed. Most of the embryos die on embryonic day 12.5 due to massive hemorrhages in the trunk. In mesenchymal cells of mutant animals, proliferation is decreased while apoptosis is increased. Further analyses reveal that the aortic blood vessels are enlarged showing a reduced numbers of vascular smooth muscle cells (vSMC) around the aorta. We hypothesize that the process of aortic wall formation is impaired, leading to subsequent rupture and leakage of the blood vessel resulting in death of the embryos. We speculate that misexpression of PDGFRalpha in SMCs causes failure of vSMC recruitment to the aorta.
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