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Allele Symbol Allele Name Allele ID |
Ccm2tm1Etl targeted mutation 1, Elisabeth Tournier-Lasserve MGI:3837678 |
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| Summary |
4 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• endothelial cells transduced with TAT-Cre recombinase to mediate Ccm2 gene ablation exhibit altered composition and organization of tight junctions and adherens junctions
• endothelial monolayer permeability is increased in cells transduced with TAT-Cre recombinase to mediate Ccm2 gene ablation in the cells
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| NOT | cerebral cavernous malformation 2 | DOID:0060670 |
OMIM:603284 |
J:146210 |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• embryonic lethality occurs between E10.5 and E11.5
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• E10.5 embryonic blood vessels do not invade the labyrinthine layer to the same extent as seen in control placentas
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• yolk sac vessels of E10.5 embryos remain in a honeycomb pattern instead of developing into the large vitelline vessels
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• 58% of E10.5 embryos have marked general delay of development
• 19% of E10.5 embryos have little to no signs of developmental delays
• 23% of E10.5 embryos have general growth arrest, a failure to complete turning and/or signs of resorption
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• somite vasculature is poorly defined in E10.5 embyros
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• E10.5 placenta has few nucleated red blood cells
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• E9.5 homozygous embryos can be distinguished from other genotypes by their pale, wrinkled yolk sacs
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• at E10.5, the different layers of the placenta are difficult to define and appear poorly organized
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• at E9.5, the dorsal aorta is irregular in appearance and thinner than controls
• at E10.5, the dorsal aorta is highly irregular in appearance and has narrow lumens
• in most embryos the dorsal aorta fails to fuse and instead remain present as two stenotic DA
• mural cells are hardly detectable in the dorsal aorta of E10.5 embryos
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• in the head of E10.5 embryos, the cephalic plexus vasculature fails to remodel into a hierarchical branched network
• a coarse vascular network with poorly organized vessels makes it difficult to distinguish the internal carotid artery or primary head veins
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• E10.5 embryonic blood vessels do not invade the labyrinthine layer to the same extent as seen in control placentas
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• cardinal veins of E10.5 embryos are dilated
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• yolk sac vessels of E10.5 embryos remain in a honeycomb pattern instead of developing into the large vitelline vessels
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• there is a paucity of cells in the cushions in the atrioventricular canal of E10.5 embryos
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• sinus venosus of E10.5 embryos are dilated
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• E10.5 embryos have enlarged atria to the degree that the more severe cases have distortion of the embryo
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• in E10.5 embryos that do not have severe growth arrest, the heart is 17% bigger than controls
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• ventricular trabeculations are strongly reduced in E10.5 embryos with, in some extreme cases, detachment of the endocardial cells from the myocardium
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• most E10.5 embryos suffer from pericardial edema to varying degrees
• half of E10.5 embryos have hemorrhaging in the pericardial cavity and in the trunk
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• most E10.5 embryos suffer from pericardial edema to varying degrees
• half of E10.5 embryos have hemorrhaging in the pericardial cavity and in the trunk
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• in the head of E10.5 embryos, the cephalic plexus vasculature fails to remodel into a hierarchical branched network
• a coarse vascular network with poorly organized vessels makes it difficult to distinguish the internal carotid artery or primary head veins
|
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• in the head of E10.5 embryos, the cephalic plexus vasculature fails to remodel into a hierarchical branched network
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• in E10.5 embryos that do not have severe growth arrest, the heart is 17% bigger than controls
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice injected with tamoxifen at P1 to induce recombination exhibit an median survival time of 17 days
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• endothelial cell-cell junctions are altered in cerebellar vessels of mutants injected with tamoxifen at P1
• mice injected with tamoxifen at P1 do not exhibit increased endothelial cell proliferation at P6
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• mice injected with tamoxifen at P1 develop cerebral cavernous malformation (CCM) lesions within the CNS beginning at P6
• CCM lesions that develop in mutants injected with tamoxifen affect the venous bed but not the arterial compartment
• mice injected with tamoxifen at 3 weeks of age do not exhibit any gross cerebrovascular phenotype, indicating that deletion of Ccm2 at three weeks of age does not lead to cerebral cavernous malformations
• fetuses at E19.5 of pregnant mice injected with tamoxifen at E14.5, exhibit vascular anomalies on the cerebral hemispheres with irregular and tortuous rhinal cerebral veins surrounded by abnormal capillaries
• mice injected with tamoxifen at P4 show a milder phenotype compared to tamoxifen treatment at P1, with single isolated caverns located within the cerebellum without sign of hemorrhage
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• mice injected with tamoxifen at P1 show CCM vascular malformations at the periphery of the retinal vascular plexus in both eyes
• CCM malformations at the periphery of the retinas are restricted to veins and the surrounding capillaries
• mice injected with tamoxifen at P1 show a thicker vascular plexus at the venous leading edge of the retina at P7, with a 29% increase in vascular coverage compared to controls and dilated main veins by P9, with abnormal capillaries at the periphery of the vascular plexus
• by 3 weeks of age, mice injected with tamoxifen at P1 do not exhibit three distinguished vascular plexuses in the retinas as seen in controls, and the vasculature from the lesion is composed by bubble like vascular structures packed together
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• cerebellar lesions of tamoxifen treated mice are composed of dilated vessels full of blood cells, and in severe cases there are signs of hemorrhage
• mice injected with tamoxifen at P1 exhibit dilation of vessels from the pial surface of the cerebellum and dilation of vessels running along the cerebellar folia at the meningeal surface corresponding to dorsal cerebellar veins
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• extensive cerebral hemorrhages are seen mostly around the multiple caverns composing cerebral cavernous malformation lesions in mice before death
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• fetuses at E19.5 of pregnant mice injected with tamoxifen at E14.5, exhibit hemorrhagic skin
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• mice injected with tamoxifen at P1 develop cerebral cavernous malformation (CCM) lesions within the CNS beginning at P6
• CCM lesions that develop in mutants injected with tamoxifen affect the venous bed but not the arterial compartment
• mice injected with tamoxifen at 3 weeks of age do not exhibit any gross cerebrovascular phenotype, indicating that deletion of Ccm2 at three weeks of age does not lead to cerebral cavernous malformations
• fetuses at E19.5 of pregnant mice injected with tamoxifen at E14.5, exhibit vascular anomalies on the cerebral hemispheres with irregular and tortuous rhinal cerebral veins surrounded by abnormal capillaries
• mice injected with tamoxifen at P4 show a milder phenotype compared to tamoxifen treatment at P1, with single isolated caverns located within the cerebellum without sign of hemorrhage
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• extensive cerebral hemorrhages are seen mostly around the multiple caverns composing cerebral cavernous malformation lesions in mice before death
|
|
• mice injected with tamoxifen at P1 develop cerebral cavernous malformation lesions within the cerebellum beginning at P6
|
|
• mice injected with tamoxifen at P1 show CCM vascular malformations at the periphery of the retinal vascular plexus in both eyes
• CCM malformations at the periphery of the retinas are restricted to veins and the surrounding capillaries
• mice injected with tamoxifen at P1 show a thicker vascular plexus at the venous leading edge of the retina at P7, with a 29% increase in vascular coverage compared to controls and dilated main veins by P9, with abnormal capillaries at the periphery of the vascular plexus
• by 3 weeks of age, mice injected with tamoxifen at P1 do not exhibit three distinguished vascular plexuses in the retinas as seen in controls, and the vasculature from the lesion is composed by bubble like vascular structures packed together
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• fetuses at E19.5 of pregnant mice injected with tamoxifen at E14.5, exhibit hemorrhagic skin
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| cerebral cavernous malformation 2 | DOID:0060670 |
OMIM:603284 |
J:177584 | |
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
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last database update 09/03/2024 MGI 6.24 |
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