mortality/aging
• homozygotes are born but die shortly after birth
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growth/size/body
• heart is enlarged with a clear indentation at the apex of the ventricles
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• smaller at E15.5
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cardiovascular system
• endocardial cushions are frequently detached from the myocardium and show a reduction in the total number of mesenchymal cells at E12.5
• endocardial cushions show an increase in the number of cells in S phase and a small decrease in the number of cells in M phase, suggesting that the cell cycle is lengthened and that mesenchymal cells divide more slowly
• myocardialization of the endocardial cushions is delayed, with no or few cells protruding from the myocardium towards the cushions at E12.5 and E13.5
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• septation of the proximal part of the outflow tract is absent
• at E15.5, the aorta and pulmonary artery separate distally, but the two large arteries remain side by side, indicating abnormal rotation of the aorta
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• absence of septum results in the persistence of a common trunk connected to the right ventricle and thus the formation of a double-outlet right ventricle
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• absence of septum formation in the proximal part (conus) of the outflow tract
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• exhibit absence of septum formation in the proximal part (conus) of the outflow tract resulting in persistent truncus arteriosis
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• heart is enlarged with a clear indentation at the apex of the ventricles
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• the valve leaflets point down to the ventricle and in most cases, they retain a thick and cushion-like appearance
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• exhibit incomplete ventricle septation at E12.5 due to the absence of septum formation in the proximal part (conus) of the outflow tract
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homeostasis/metabolism