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Phenotypes Associated with This Genotype
Genotype
MGI:5052330
Allelic
Composition
Ccm2tm1Kwhi/Ccm2tm1.1Kwhi
Tg(Pdgfb-icre/ERT2)1Frut/?
Genetic
Background
involves: C57BL/6 * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ccm2tm1.1Kwhi mutation (0 available); any Ccm2 mutation (39 available)
Ccm2tm1Kwhi mutation (0 available); any Ccm2 mutation (39 available)
Tg(Pdgfb-icre/ERT2)1Frut mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• increased early mortality

cardiovascular system
• 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
• foot processes are missing

nervous system
• 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
• foci of mononuclear inflammatory cells also seen
• foot processes are missing

immune system
• foci of mononuclear inflammatory cells also seen

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
cerebral cavernous malformation 2 DOID:0060670 OMIM:603284
J:173947


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