cardiovascular system
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• by E9.5, some homozygous embryos display abnormally vascularized yolk sacs
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• by E9.5, a minority of homozygous embryos display abnormal heart morphology
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craniofacial
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• at E9.5 and E10.5, most homozygous embryos exhibit abnormally shaped heads
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embryo
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• by E9.5, some homozygous embryos display abnormally vascularized yolk sacs
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• at E9.5 and E10.5, most homozygous embryos exhibit incomplete turning
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• most homozygous embryos are developmentally delayed by E9.5
• by E10.5, a range of severity is observed but all embryos are delayed
• however, E8.5 embryos are largely indistinguishable from controls and initiate cardiac development as well as normal gut tube closure
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• at E9.5, all homozygous embryos are smaller than control littermates
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• by E9.5, most homozygous embryos show mild caudal neural tube kinking
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• at E9.5, placentas exhibit multiple labyrinth zone defects
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• at E9.5, the Tfeb+ labyrinth trophoblast layer fails to expand, remaining a thin layer
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• at E9.5, placentas exhibit a diminished Tpbpa+ spongiotrophoblast layer
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• by E9.5, some homozygous embryos display pale yolk sacs
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• at E9.5, Gcm1+ chorioallantoic branching is severely impaired
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• at E9.5, placentas exhibit an abnormal chorioallantoic interface with limited interface expansion
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growth/size/body
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• at E9.5 and E10.5, most homozygous embryos exhibit abnormally shaped heads
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• most homozygous embryos are developmentally delayed by E9.5
• by E10.5, a range of severity is observed but all embryos are delayed
• however, E8.5 embryos are largely indistinguishable from controls and initiate cardiac development as well as normal gut tube closure
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• at E9.5, all homozygous embryos are smaller than control littermates
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limbs/digits/tail
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• at E9.5 and E10.5, most homozygous embryos show abnormal tail morphology
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mortality/aging
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IMPC - JAX
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• homozygous embryos are present in Mendelian ratios at E8.5 but absent at E12.5; approximately 1/4 of homozygous embryos are dying by E9.5
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nervous system
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• by E9.5, most homozygous embryos show mild caudal neural tube kinking
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