mortality/aging
cardiovascular system
• about 5% of mutants show a hypoplastic pulmonary trunk at E15.5 and E16.5
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• about 30% of mutants exhibit interrupted aortic arch, type b at E15.5 and E16.5
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• the number of neural crest cells in the proximal outflow tract cushions is reduced at E11.5
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• all mutants exhibit the double outlet right ventricle at E15.5 and E16.5
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• all mutants exhibit a ventricular septal defect at E15.5 and E16.5
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craniofacial
• E17.5 mutants show a smaller frontal bone
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• E17.5 mutants exhibit a smaller mandible
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• E17.5 mutants exhibit a smaller maxilla
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• 30% of mutants show increased cell death in the pharyngeal arch region
• however, no reduction in cell proliferation is seen in the pharyngeal arch regions at E11.5
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embryo
• 30% of mutants show increased cell death in the pharyngeal arch region
• however, no reduction in cell proliferation is seen in the pharyngeal arch regions at E11.5
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• marker analysis at E11.5 indicates that differentiation of cranial neural crest cells into smooth muscle cells is reduced
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• cell proliferation in the neural crest cell derivatives, aorta and pulmonary trunk walls, is reduced at E12.5
• 30% of mutants show increased cell death in the pharyngeal arch region
• however, no reduction in cell proliferation is seen in the dorsal neural tube, pharyngeal arch regions and outflow tract cushions at E11.5 and no increase in cell death is seen in the dorsal neural tube and outflow tract cushions at E11.5
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• the number of neural crest cells in the proximal outflow tract cushions is reduced at E11.5 however, no increase in cell death or reduction in cell proliferation is seen in the outflow tract cushions, indicating that cranial neural crest cell migration to outflow tract cushions is reduced
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nervous system
• marker analysis at E11.5 indicates that differentiation of cranial neural crest cells into smooth muscle cells is reduced
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skeleton
• E17.5 mutants show a smaller frontal bone
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• E17.5 mutants exhibit a smaller mandible
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• E17.5 mutants exhibit a smaller maxilla
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cellular
• the number of neural crest cells in the proximal outflow tract cushions is reduced at E11.5 however, no increase in cell death or reduction in cell proliferation is seen in the outflow tract cushions, indicating that cranial neural crest cell migration to outflow tract cushions is reduced
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