mortality/aging
• all homozygous mutants become cyanotic and die within 24 hours of birth
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cardiovascular system
• at E10.5 the 4th arch arteries are reduced in size
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• at E10.5, the 6th arch arteries are extremely small or absent
• a mass of endothelial cells that fail to form a tube are seen near where the 6th arch arteries should be located
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• the right subclavian artery arises from a more distal location than normal
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• some embryos display right-sided aortic arch
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• the origin of the coronary artery is ectopic arising from the mid portion of the ascending aorta rather than from the coronary sinus
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• the left subclavian artery is closed or absent
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• at E10.5 the intersomitic vasculature is disorganized with vessels crossing the out of the regions between somites
• this disorganization results in abnormal intercostal vessels in homozygous mutant neonates however the abnormalities are not as severe suggesting partial recovery occurs
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• increased vascularity is seen on the surface of the ventricles
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• the ductus arteriosus is absent
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• the number of differentiated smooth muscle cells surrounding the 4 th and 6th arch arteries is reduced
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• failure of septation of the cardiac outflow tract is seen at E12.5 and at birth
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• the atria are thin-walled
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homeostasis/metabolism
muscle
• the number of differentiated smooth muscle cells surrounding the 4 th and 6th arch arteries is reduced
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craniofacial
• at E10.5 the 4th arch arteries are reduced in size
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• at E10.5, the 6th arch arteries are extremely small or absent
• a mass of endothelial cells that fail to form a tube are seen near where the 6th arch arteries should be located
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embryo
• at E10.5 the 4th arch arteries are reduced in size
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• at E10.5, the 6th arch arteries are extremely small or absent
• a mass of endothelial cells that fail to form a tube are seen near where the 6th arch arteries should be located
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