mortality/aging
• homozygous embryos die at E9.5-E11.5
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cardiovascular system
• homozygotes exhibit randomized left-right heart looping
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• a ballooning of the pericardial sac and blood accumulations were found at various stages
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embryo
• the branchial arches appear reduced in size
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• axial rotation was not completed or in some cases was not initiated
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• at E9.5, homozygous embryos are 50% smaller than littermates and remain smaller until death
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• the floorplate was undetectable at E10.5, although it was seen at E8.5
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• closure is not initiated in embryos with 10-12 somites; the elevation of the neural folds is delayed and the rostral neural plate appears flattened
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• some embryos exhibit a failure to fuse the neural folds along the midbrain/hindbrain region
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• a progressive degeneration of the notochord was noted
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• somites appear smaller than normal
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• only a maximum of 20 somite pairs form
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• variable penetrance; in the most severely affected embryos, the tail bud was small and undifferentiated
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• in severely affected embryos
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• the allantois detaches from the embryonic membranes during dissection
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growth/size/body
• at E9.5, homozygous embryos are 50% smaller than littermates and remain smaller until death
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nervous system
• the floorplate was undetectable at E10.5, although it was seen at E8.5
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• closure is not initiated in embryos with 10-12 somites; the elevation of the neural folds is delayed and the rostral neural plate appears flattened
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• some embryos exhibit a failure to fuse the neural folds along the midbrain/hindbrain region
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• the shape of the ventricles is abnormal due to an expansion of the rostral cranial cavities
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craniofacial
• the frontonasal process appears reduced in size
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• the branchial arches appear reduced in size
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limbs/digits/tail
• variable penetrance; in the most severely affected embryos, the tail bud was small and undifferentiated
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• in severely affected embryos
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homeostasis/metabolism
• a ballooning of the pericardial sac and blood accumulations were found at various stages
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