mortality/aging
|
• 20% of homozygous embryos continue development and die within the first day after birth displaying intracranial and intestinal hemorrhage
|
|
• about 80% of homozygotes die between E10 and E12
|
embryo
|
• underdeveloped in 80% of homozygotes at E10.5
|
|
• development is normal to E9.5
• developmental delays start around E10.5 in about 80% of embryos
|
|
• seen in 80% of homozygotes which experience embryonic lethality
|
|
• yolk sac blood vessels are somewhat distended at E10.5 but otherwise normal
|
|
• fewer fetal blood vessels or absence of such vessels
• allantoic and fetal placental blood sinuses frequently dilated and filled with fetal red blood cells
|
|
• labyrinthine zone of placenta was reduced
|
|
• trophoblastic region abnormally thick and compact
|
craniofacial
|
• smaller nasal processes at 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
|
|
• underdeveloped in 80% of homozygotes at E10.5
|
|
• anteroposterior cleft in mice surviving to birth
|
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
|
|
• fewer fetal blood vessels or absence of such vessels
• allantoic and fetal placental blood sinuses frequently dilated and filled with fetal red blood cells
|
|
• yolk sac blood vessels are somewhat distended at E10.5 but otherwise normal
|
|
• myocardial trabeculae are less complex
|
|
• heart becomes increasingly distended after E10.5 in 80% of homozygotes
|
|
• sometimes develops around E10.5 in homozygotes that die as embryos
|
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
|
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
|
homeostasis/metabolism
|
• sometimes develops around E10.5 in homozygotes that die as embryos
|


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