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Phenotypes Associated with This Genotype
Genotype
MGI:5297594
Allelic
Composition
Ccm2tm1.1Etl/Ccm2tm1Etl
Tg(Cdh5-cre/ERT2)1Rha/0
Genetic
Background
involves: 129 * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ccm2tm1.1Etl mutation (0 available); any Ccm2 mutation (39 available)
Ccm2tm1Etl mutation (0 available); any Ccm2 mutation (39 available)
Tg(Cdh5-cre/ERT2)1Rha mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice injected with tamoxifen at P1 to induce recombination exhibit an median survival time of 17 days

cardiovascular system
• 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
• 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
• 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
• 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
• extensive cerebral hemorrhages are seen mostly around the multiple caverns composing cerebral cavernous malformation lesions in mice before death
• fetuses at E19.5 of pregnant mice injected with tamoxifen at E14.5, exhibit hemorrhagic skin

nervous system
• 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
• 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

vision/eye
• 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

integument
• fetuses at E19.5 of pregnant mice injected with tamoxifen at E14.5, exhibit hemorrhagic skin

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
cerebral cavernous malformation 2 DOID:0060670 OMIM:603284
J:177584


Contributing Projects:
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
10/08/2019
MGI 6.14
The Jackson Laboratory