mortality/aging
• heterozygotes mating produced no live born homozygous pups
• homozygous mutants rarely survived to 12.5 dpc
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cardiovascular system
• approximately 60% of homozygous mutant embryos with more severe phenotype showed abnormalities in their cardiovascular system
• this group had impaired vascular remodeling from the primitive plexus to the higher order architecture
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• this group had arrested heart looping with dilated pericardial sacs
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• approximately 60% of homozygous mutant embryos with more severe phenotype showed dilated hearts at 9.5-10.5 dpc
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craniofacial
• approximately 60% of homozygous mutant embryos with more severe phenotype showed small and hypoplastic branchial arches at 9.5-10.5 dpc
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cellular
• approximately 60% of homozygous mutant embryos with more severe phenotype showed abnormalities in their cardiovascular system
• this group had impaired vascular remodeling from the primitive plexus to the higher order architecture
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• approximately 60% of homozygous mutant embryos with more severe phenotype showed extensive increase of apoptotic cells in both neural crest cell complex and branchial arches 1 and 2
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embryo
• approximately 60% of homozygous mutant embryos with more severe phenotype showed small and hypoplastic branchial arches at 9.5-10.5 dpc
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• about 40% of homozygous mutant embryos showed only growth retardation without cardiac and head deformities
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• approximately 60% of homozygous mutant embryos with more severe phenotype showed wavy neural tube at 9.5 to 10.5 dpc
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nervous system
• approximately 60% of homozygous mutant embryos with more severe phenotype showed wavy neural tube at 9.5 to 10.5 dpc
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growth/size/body
• about 40% of homozygous mutant embryos showed only growth retardation without cardiac and head deformities
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• approximately 60% of homozygous mutant embryos with more severe phenotype showed head deformities with a small craniofacial structure at 9.5-10.5 dpc
• this group had a marked reduction in the number of mesenchymal cells putatively derived from neural fold
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