mortality/aging
• 20% of homozygous embryos continue development and die within the first day after birth displaying intracranial and intestinal hemorrhage
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• about 80% of homozygotes die between E10 and E12
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embryo
• underdeveloped in 80% of homozygotes at E10.5
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• development is normal to E9.5
• developmental delays start around E10.5 in about 80% of embryos
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• seen in 80% of homozygotes which experience embryonic lethality
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• yolk sac blood vessels are somewhat distended at E10.5 but otherwise normal
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• fewer fetal blood vessels or absence of such vessels
• allantoic and fetal placental blood sinuses frequently dilated and filled with fetal red blood cells
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• labyrinthine zone of placenta was reduced
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• trophoblastic region abnormally thick and compact
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craniofacial
• smaller nasal processes at E10.5 in 80% of homozygotes
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• malformed secondary palate in 20% of homozygotes
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• in mutant embryos, palatal shelves have elevated, but are short stumps and do not meet in the midline; ossification is prominent in the stumps
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• underdeveloped in 80% of homozygotes at E10.5
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• anteroposterior cleft in mice surviving to birth
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cardiovascular system
• less complex primary perineural plexus with distended blood vessels at E10.5 in 80% of homozygotes
• blood vessels branch deeply into the brain parenchyma, are distended and eventually leak in mice surviving to birth
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• fewer fetal blood vessels or absence of such vessels
• allantoic and fetal placental blood sinuses frequently dilated and filled with fetal red blood cells
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• yolk sac blood vessels are somewhat distended at E10.5 but otherwise normal
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• myocardial trabeculae are less complex
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• heart becomes increasingly distended after E10.5 in 80% of homozygotes
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• sometimes develops around E10.5 in homozygotes that die as embryos
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hemorrhage
(
J:50951
)
• intestinal hemorrhaging in 20% of homozygotes
|
• begins around E12.5 in 20% of embryos surviving to birth
• progressively worsens
• bleeding first appears in the floor of the telencephalon at the ganglionic eminence
• by E13.5 more severe bleeding spreads to the diencephalons, cortex of forebrain and cortex of midbrain
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growth/size/body
• heart becomes increasingly distended after E10.5 in 80% of homozygotes
|
• malformed secondary palate in 20% of homozygotes
|
• in mutant embryos, palatal shelves have elevated, but are short stumps and do not meet in the midline; ossification is prominent in the stumps
|
• anteroposterior cleft in mice surviving to birth
|
microcephaly
(
J:50951
)
• smaller heads at E10.5 in 80% of homozygotes
|
• development is normal to E9.5
• developmental delays start around E10.5 in about 80% of embryos
|
digestive/alimentary system
• intestinal hemorrhaging in 20% of homozygotes
|
• malformed secondary palate in 20% of homozygotes
|
• in mutant embryos, palatal shelves have elevated, but are short stumps and do not meet in the midline; ossification is prominent in the stumps
|
• anteroposterior cleft in mice surviving to birth
|
nervous system
• begins around E12.5 in 20% of embryos surviving to birth
• progressively worsens
• bleeding first appears in the floor of the telencephalon at the ganglionic eminence
• by E13.5 more severe bleeding spreads to the diencephalons, cortex of forebrain and cortex of midbrain
|
hydrocephaly
(
J:50951
)
• heads appear hydrocephalic in 20% of homozygotes surviving to birth
|
muscle
• myocardial trabeculae are less complex
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homeostasis/metabolism
• sometimes develops around E10.5 in homozygotes that die as embryos
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