mortality/aging
• mice die within hours of birth
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• the number of embryos at E14.5 is reduced by 40% and only 55% of expected embryos are born
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cardiovascular system
• soon after E11.5, the fourth pharyngeal arch artery (PAA) regresses due to enhanced apoptosis of smooth muscle cells surrounding the left fourth PAA
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• 21 of 26 mice exhibit an interruption in the aortic arch (IAA)
• unlike in wild-type mice, the only connection between the heart and the dorsal aorta is the ductus arteriosus
• IAA occurs either between the left common carotid and the left subclavian arteries or, in 1 of 21 mice, between the brachiocephalic and left common carotid arteries
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• a right-sided aortic arch is seen in 4 of 26 mice
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• in some mice the coronary artery arises from the mid-portion of the ascending aorta instead of the coronary sinus
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• soon after E11.5, smooth muscle cells surrounding the left fourth pharyngeal arch artery exhibit increased apoptosis
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• cardiac neural crest cells fail to express two cardiac neural crest markers (Plxna2 and Foxc1)
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• at E11.5, the aortic sac fails to form the aortico-pulmonary septum
• however, the number of cardiac neural crest cells invading the outflow tract is normal
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• all mice exhibit persistent truncus arteriosis
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• mice lack an atrial septum
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• the basal portion of the ventricular septum (the membranous septum) is missing
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embryo
• soon after E11.5, the fourth pharyngeal arch artery (PAA) regresses due to enhanced apoptosis of smooth muscle cells surrounding the left fourth PAA
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• cardiac neural crest cells fail to express two cardiac neural crest markers (Plxna2 and Foxc1)
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homeostasis/metabolism
muscle
• soon after E11.5, smooth muscle cells surrounding the left fourth pharyngeal arch artery exhibit increased apoptosis
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craniofacial
• soon after E11.5, the fourth pharyngeal arch artery (PAA) regresses due to enhanced apoptosis of smooth muscle cells surrounding the left fourth PAA
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nervous system
• cardiac neural crest cells fail to express two cardiac neural crest markers (Plxna2 and Foxc1)
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