cardiovascular system
hemorrhage
(
J:64396
)
|
• ~25% of newborn homozygotes suffer from primarily abdominal hemorrhages, although hemorrhages around the cranial, neck, and nasal areas are also observed
• however, many homozygotes are able to resolve the bleeding and recover
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• ~25% of newborn homozygotes suffer from primarily abdominal hemorrhages
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• pregnant female homozygotes consistently present with various degrees of vaginal bleeding beginning at E7
(J:75302)
• excessive maternal bleeding is detected at the implantation site in the uterus as early as E6
(J:75302)
|
homeostasis/metabolism
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• homozygotes exhibit significantly delayed thrombin-induced plasma clot times (>17 min) relative to wild-type mice (35.5 3.5 sec)
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reproductive system
|
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• pregnant female homozygotes consistently present with various degrees of vaginal bleeding beginning at E7
(J:75302)
• excessive maternal bleeding is detected at the implantation site in the uterus as early as E6
(J:75302)
|
|
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• at E6, embryos in the uteri of pregnant female homozygotes show severe bleeding in regions around the ectoplacental cone, resulting in blood-filled lacunae at E8 to E9
(J:75302)
• by E9 large areas of bleeding initiate the disruption of the placenta and yolk sac from the endometrium
(J:75302)
• pregnant female homozygotes undergo spontaneous abortion, with resulting maternal death at E9.75 through excessive bleeding
(J:75302)
• a minimal dosage schedule of 10 mg of fibrinogen at E8.5 and E17.5 rescues pregnancy and results in successful vaginal deliveries
(J:75302)
|
embryogenesis
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• at E9.75, embryos obtained from female pregnant homozygotes are significantly smaller and show bleeding in the egg cylinder cavity
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• at E9.75, placental detachment occurs from the implantation site
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• female homozygotes exhibit abnormal development of fetal-maternal vascular communication and stabilization of embryo implantation
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• afibrinogenemic pregnant females show detachment of the fibrinoid layer from the decidua and disruption of sinusoids of the labyrinths with severe hemorrhage along the planes of placental-decidual attachment
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• at E9, embryos obtained from pregnant female homozygotes display a smaller placenta
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• at E9.75, embryos obtained from female pregnant homozygotes display a significantly smaller yolk sac
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growth/size
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• at E9.75, embryos obtained from female pregnant homozygotes are significantly smaller and show bleeding in the egg cylinder cavity
|
respiratory system
| N |
• in response to bleomycin-induced acute lung injury, homozygotes show no significant differences in the deposition of interstitial collagen and pulmonary fibrotic lesions at 7 and 14 days after intratracheal administration of bleomycin relative to wild type mice
(J:64396)
|
Mouse Models of Human Disease |
OMIM ID | Ref(s) | |
| Afibrinogenemia, Congenital | 202400 | J:75302 | |
