dilated aortic sac Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description abnormally stretched or widened aperture of the luminal space of the endothelial lined dilation that is located at the arterial pole of the heart just above (distal to) the truncus arteriosus in mammalian embryos; it is the primordial vascular channel from which the aortic arches (and eventually the dorsal aortae) arise; the aortic sac is homologous to the ventral aorta of gill-bearing vertebrates (Mammalian Phenotype Ontology, MP_0012511)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0012511
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3 gene mutations causing the dilated aortic sac phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
CCM2 cerebral cavernous malformation 2
HAND2 heart and neural crest derivatives expressed 2
KCNH2 potassium channel, voltage gated eag related subfamily H, member 2