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Allele Symbol Allele Name Allele ID |
Ccm2tm1.1Kwhi targeted mutation 1.1, Kevin Whitehead MGI:3817970 |
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| Summary |
5 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• phenotype is stated to be identical to that of Ccm2 Gt(RRG051)Byg homozygotes; however no data are presented
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• increased early mortality
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• cerebral cavernous malformations develop as early as two months after tamoxifen treatment at 1 day of age
• most mice have lesions at 4 months and all mice at 6 months
• additional abnormalities include capillary telangiectasias, isolated caverns and multiple back to back caverns, thrombosis, hemorrhage, formation of secondary channels
• attenuation of endothelial cells in larger secondary channels but no gaps
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• foot processes are missing
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• cerebral cavernous malformations develop as early as two months after tamoxifen treatment at 1 day of age
• most mice have lesions at 4 months and all mice at 6 months
• additional abnormalities include capillary telangiectasias, isolated caverns and multiple back to back caverns, thrombosis, hemorrhage, formation of secondary channels
• attenuation of endothelial cells in larger secondary channels but no gaps
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• foci of mononuclear inflammatory cells also seen
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• foot processes are missing
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• foci of mononuclear inflammatory cells also seen
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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:173947 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• no vasculature defects are observed during development
• homozygote mice are born at the expected ratios
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice die between E9-E10 from failed angiogenesis
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• the first branchial arch artery of E8.5 embryos fail to form a proper lumen
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• the second branchial arch artery of E8.5 embryos fail to form a proper lumen
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• the third branchial arch artery of E8.5 embryos fail to form a proper lumen
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• the caudal portion of the dorsal aorta becomes enlarged in 8.5 embryos
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• the first branchial arch artery of E8.5 embryos fail to form a proper lumen
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• the second branchial arch artery of E8.5 embryos fail to form a proper lumen
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• the third branchial arch artery of E8.5 embryos fail to form a proper lumen
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• adjacent portions of the aorta are also narrow and irregular
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• the branchial arch arteries, the first essential angiogenic vessels, fail to form a stable lumen in E8.5 embryos
• the heart is not functionally connected with the vasculature, and circulation fails to initiate
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• circulation is not established in E8.5 embryos
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• the first branchial arch artery of E8.5 embryos fail to form a proper lumen
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• the second branchial arch artery of E8.5 embryos fail to form a proper lumen
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• the third branchial arch artery of E8.5 embryos fail to form a proper lumen
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• no vasculature defects are observed during development
• homozygote mice are born at the expected ratios
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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 04/30/2024 MGI 6.23 |
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