An activating mutation in the PDGF receptor alpha results in embryonic lethality caused by malformation of the vascular system
Related Experiment Video
Updated: Jun 24, 2026

Analyzing Craniofacial Morphogenesis in Zebrafish Using 4D Confocal Microscopy
Published on: January 30, 2014
Patricia Kurth1, Anne Moenning, Richard Jäger
1Department of Developmental Pathology, Institute of Pathology, University of Bonn Medical School, Bonn, Germany.
Abstract:
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.
Related Concept Videos
Regulation of Angiogenesis and Blood Supply
Teratogenicity
Lethal Alleles
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
In-vitro Mutagenesis
The Ras Gene
Ras is a superfamily...

