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Phenotypes Associated with This Genotype
Genotype
MGI:5085321
Allelic
Composition
Ccm2tm2.1Sbn/Ccm2tm2.1Sbn
Tg(Mx1-cre)1Cgn/0
Genetic
Background
involves: C57BL/6 * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ccm2tm2.1Sbn mutation (0 available); any Ccm2 mutation (39 available)
Tg(Mx1-cre)1Cgn mutation (6 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• 3 of 6 mice treated with pIpC at 6 - 8 weeks of age died suddenly between 7 - 8 months of age

cardiovascular system
• cerebral cavernous malformation like vessels in pIpC treated mice were grossly dilated and exhibited an impaired and disrupted endothelial lumen structure
• cerebral cavernous malformation like lesions were detectable at 3 weeks after pIpC treatment
• all mice treated with pIpC at 6 - 8 weeks displayed prominent brain hemorrhages at over 7 months of age
• hemorrhages are widespread throughout the brain
• accumulation of hemosiderin in the brain neuronal damage were seen in association with lesions
• larger hemorrhages were visible most often in the cerebrum and cerebellum
• larger hemorrhages were visible most often in the cerebrum and cerebellum
• astrocyte abnormalities indicate an impaired blood-brain barrier in the region of cerebral cavernous malformation like lesions in pIpC treated mice

nervous system
• seizure like behavior was seen in 1 mouse, treated with pIpC at 6 - 8 weeks of age, at over 7 months of age
• cerebral cavernous malformation like vessels in pIpC treated mice were grossly dilated and exhibited an impaired and disrupted endothelial lumen structure
• cerebral cavernous malformation like lesions were detectable at 3 weeks after pIpC treatment
• all mice treated with pIpC at 6 - 8 weeks displayed prominent brain hemorrhages at over 7 months of age
• hemorrhages are widespread throughout the brain
• accumulation of hemosiderin in the brain neuronal damage were seen in association with lesions
• larger hemorrhages were visible most often in the cerebrum and cerebellum
• larger hemorrhages were visible most often in the cerebrum and cerebellum
• astrocyte abnormalities indicate an impaired blood-brain barrier in the region of cerebral cavernous malformation like lesions in pIpC treated mice
• microglia were recruited to cerebral cavernous malformation like lesions
• in pIpC treated mice astrocytes in the region of cerebral cavernous malformation like lesions astrocytes failed to extend their projections to surround capillaries and instead formed abnormal cell clusters

behavior/neurological
• in 1 mouse, treated with pIpC at 6 - 8 weeks of age, at over 7 months of age
• seizure like behavior was seen in 1 mouse, treated with pIpC at 6 - 8 weeks of age, at over 7 months of age

hematopoietic system
• microglia were recruited to cerebral cavernous malformation like lesions

immune system
• microglia were recruited to cerebral cavernous malformation like lesions

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
cerebral cavernous malformation 2 DOID:0060670 OMIM:603284
J:174085


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