Analysis Tools
mortality/aging
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• those that survive to birth die postnatally due to lethal vascular defects in 30% and severe craniofacial defects in 100% of mutants
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• 25% die prior to birth
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cardiovascular system
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• 30% show lethal vascular defects, however outflow tract development is normal
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• 95% have abnormal fourth pharyngeal arch artery formation at E10.5
• migration and early differentiation of the 4th pharyngeal arch artery endothelial cells occurs normally but subsequent vascular organization fails such that at the 35-37 somite stage, endothelial cells remain disorganized and fail to form primitive vascular tubes, long after this vessel is patent and pericyte recruitment is under way in controls
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• 33% display bilateral aplasia of the fourth and sixth pharyngeal arch arteries at E10.5
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• 12% show bilateral hypoplasia of the 4th pharyngeal arch arteries
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• 33% display bilateral aplasia of the fourth and sixth pharyngeal arch arteries at E10.5
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• exhibit an abnormally large third pharyngeal arch artery
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• 30% of E18.5 mutants have interrupted aortic arch type B (IAAB)
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• 13% exhibit circumflex right aortic arch (RAA) or RAA with right ductus arteriosus
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• 46% exhibit coronary artery anomalies, in isolation or associated with other vascular defects
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• subclavian artery anomalies
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• 80% exhibit retroesophageal right subclavian artery or abnormal subclavian branching associated with other defects
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craniofacial
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• 100% show severe craniofacial malformations
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• 95% have abnormal fourth pharyngeal arch artery formation at E10.5
• migration and early differentiation of the 4th pharyngeal arch artery endothelial cells occurs normally but subsequent vascular organization fails such that at the 35-37 somite stage, endothelial cells remain disorganized and fail to form primitive vascular tubes, long after this vessel is patent and pericyte recruitment is under way in controls
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• 33% display bilateral aplasia of the fourth and sixth pharyngeal arch arteries at E10.5
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• 12% show bilateral hypoplasia of the 4th pharyngeal arch arteries
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• 33% display bilateral aplasia of the fourth and sixth pharyngeal arch arteries at E10.5
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• exhibit an abnormally large third pharyngeal arch artery
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• exhibit severe pharyngeal arch 1 hypoplasia and hypoplasia and fusion of the more caudal pharyngeal arches as early as E9.5
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embryo
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• 95% have abnormal fourth pharyngeal arch artery formation at E10.5
• migration and early differentiation of the 4th pharyngeal arch artery endothelial cells occurs normally but subsequent vascular organization fails such that at the 35-37 somite stage, endothelial cells remain disorganized and fail to form primitive vascular tubes, long after this vessel is patent and pericyte recruitment is under way in controls
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• 33% display bilateral aplasia of the fourth and sixth pharyngeal arch arteries at E10.5
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• 12% show bilateral hypoplasia of the 4th pharyngeal arch arteries
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• 33% display bilateral aplasia of the fourth and sixth pharyngeal arch arteries at E10.5
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• exhibit an abnormally large third pharyngeal arch artery
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• exhibit an increase in apoptosis of neural crest cells migrating from rhombomeres 6-8
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• exhibit severe pharyngeal arch 1 hypoplasia and hypoplasia and fusion of the more caudal pharyngeal arches as early as E9.5
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cellular
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• exhibit an increase in apoptosis of neural crest cells migrating from rhombomeres 6-8
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