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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Ccm2tm2.1Sbn
targeted mutation 2.1, Ulrich Siebenlist
MGI:5085315
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
cn1
Ccm2tm2.1Sbn/Ccm2tm2.1Sbn
Tg(Mx1-cre)1Cgn/0
involves: C57BL/6 * CBA MGI:5085321
cn2
Ccm2tm2.1Sbn/Ccm2tm2.1Sbn
Tg(Tek-cre)1Ywa/0
involves: C57BL/6 * SJL MGI:5085318


Genotype
MGI:5085321
cn1
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 (31 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 (J:174085)
• 3 of 6 mice treated with pIpC at 6 - 8 weeks of age died suddenly between 7 - 8 months of age (J:174085)

cardiovascular system
• cerebral cavernous malformation like vessels in pIpC treated mice were grossly dilated and exhibited an impaired and disrupted endothelial lumen structure (J:174085)
• cerebral cavernous malformation like lesions were detectable at 3 weeks after pIpC treatment (J:174085)
• cerebral cavernous malformation like vessels in pIpC treated mice were grossly dilated and exhibited an impaired and disrupted endothelial lumen structure (J:174085)
• cerebral cavernous malformation like lesions were detectable at 3 weeks after pIpC treatment (J:174085)
• all mice treated with pIpC at 6 - 8 weeks displayed prominent brain hemorrhages at over 7 months of age (J:174085)
• hemorrhages are widespread throughout the brain (J:174085)
• accumulation of hemosiderin in the brain neuronal damage were seen in association with lesions (J:174085)
• all mice treated with pIpC at 6 - 8 weeks displayed prominent brain hemorrhages at over 7 months of age (J:174085)
• hemorrhages are widespread throughout the brain (J:174085)
• accumulation of hemosiderin in the brain neuronal damage were seen in association with lesions (J:174085)
• larger hemorrhages were visible most often in the cerebrum and cerebellum (J:174085)
• larger hemorrhages were visible most often in the cerebrum and cerebellum (J:174085)
• larger hemorrhages were visible most often in the cerebrum and cerebellum (J:174085)
• larger hemorrhages were visible most often in the cerebrum and cerebellum (J:174085)
• astrocyte abnormalities indicate an impaired blood-brain barrier in the region of cerebral cavernous malformation like lesions in pIpC treated mice (J:174085)
• astrocyte abnormalities indicate an impaired blood-brain barrier in the region of cerebral cavernous malformation like lesions in pIpC treated mice (J:174085)

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 (J:174085)
• seizure like behavior was seen in 1 mouse, treated with pIpC at 6 - 8 weeks of age, at over 7 months of age (J:174085)
• cerebral cavernous malformation like vessels in pIpC treated mice were grossly dilated and exhibited an impaired and disrupted endothelial lumen structure (J:174085)
• cerebral cavernous malformation like lesions were detectable at 3 weeks after pIpC treatment (J:174085)
• cerebral cavernous malformation like vessels in pIpC treated mice were grossly dilated and exhibited an impaired and disrupted endothelial lumen structure (J:174085)
• cerebral cavernous malformation like lesions were detectable at 3 weeks after pIpC treatment (J:174085)
• all mice treated with pIpC at 6 - 8 weeks displayed prominent brain hemorrhages at over 7 months of age (J:174085)
• hemorrhages are widespread throughout the brain (J:174085)
• accumulation of hemosiderin in the brain neuronal damage were seen in association with lesions (J:174085)
• all mice treated with pIpC at 6 - 8 weeks displayed prominent brain hemorrhages at over 7 months of age (J:174085)
• hemorrhages are widespread throughout the brain (J:174085)
• accumulation of hemosiderin in the brain neuronal damage were seen in association with lesions (J:174085)
• larger hemorrhages were visible most often in the cerebrum and cerebellum (J:174085)
• larger hemorrhages were visible most often in the cerebrum and cerebellum (J:174085)
• larger hemorrhages were visible most often in the cerebrum and cerebellum (J:174085)
• larger hemorrhages were visible most often in the cerebrum and cerebellum (J:174085)
• astrocyte abnormalities indicate an impaired blood-brain barrier in the region of cerebral cavernous malformation like lesions in pIpC treated mice (J:174085)
• astrocyte abnormalities indicate an impaired blood-brain barrier in the region of cerebral cavernous malformation like lesions in pIpC treated mice (J:174085)
• microglia were recruited to cerebral cavernous malformation like lesions (J:174085)
• microglia were recruited to cerebral cavernous malformation like lesions (J:174085)
• 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 (J:174085)
• 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 (J:174085)

behavior/neurological
• in 1 mouse, treated with pIpC at 6 - 8 weeks of age, at over 7 months of age (J:174085)
• in 1 mouse, treated with pIpC at 6 - 8 weeks of age, at over 7 months of age (J:174085)
• seizure like behavior was seen in 1 mouse, treated with pIpC at 6 - 8 weeks of age, at over 7 months of age (J:174085)
• seizure like behavior was seen in 1 mouse, treated with pIpC at 6 - 8 weeks of age, at over 7 months of age (J:174085)

hematopoietic system
• microglia were recruited to cerebral cavernous malformation like lesions (J:174085)
• microglia were recruited to cerebral cavernous malformation like lesions (J:174085)

immune system
• microglia were recruited to cerebral cavernous malformation like lesions (J:174085)
• microglia were recruited to cerebral cavernous malformation like lesions (J:174085)

Mouse Models of Human Disease
OMIM ID Ref(s)
Cerebral Cavernous Malformations 2; CCM2 603284 J:174085




Genotype
MGI:5085318
cn2
Allelic
Composition
Ccm2tm2.1Sbn/Ccm2tm2.1Sbn
Tg(Tek-cre)1Ywa/0
Genetic
Background
involves: C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ccm2tm2.1Sbn mutation (0 available); any Ccm2 mutation (31 available)
Tg(Tek-cre)1Ywa mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• expression analysis suggests that arteriogenesis is deficient (J:174085)
• expression analysis suggests that arteriogenesis is deficient (J:174085)
• at E9.5 no smooth muscle cells are detected around the dorsal aorta and no proper lumen is formed (J:174085)
• at E9.5 no smooth muscle cells are detected around the dorsal aorta and no proper lumen is formed (J:174085)
• while the head and vitelline vascular plexi form they are not remodeled (J:174085)
• while the head and vitelline vascular plexi form they are not remodeled (J:174085)
• the dorsal aorta and posterior cardinal veins fuse with relatively little branching unlike in controls (J:174085)
• the dorsal aorta and posterior cardinal veins fuse with relatively little branching unlike in controls (J:174085)
• failure of remodeling (J:174085)
• failure of remodeling (J:174085)
• at E9.5 no smooth muscle cells are detected around the dorsal aorta (J:174085)
• at E9.5 no smooth muscle cells are detected around the dorsal aorta (J:174085)
• failure of endocardium expansion (J:174085)
• no or significantly deficient ventricular trabeculation (J:174085)
• failure of endocardium expansion (J:174085)
• no or significantly deficient ventricular trabeculation (J:174085)
• incomplete looping (J:174085)
• incomplete looping (J:174085)

embryogenesis
• failure of remodeling (J:174085)
• failure of remodeling (J:174085)
• less severe than in homozygous null mice (J:174085)
• less severe than in homozygous null mice (J:174085)

growth/size/body
• less severe than in homozygous null mice (J:174085)
• less severe than in homozygous null mice (J:174085)

muscle
• at E9.5 no smooth muscle cells are detected around the dorsal aorta (J:174085)
• at E9.5 no smooth muscle cells are detected around the dorsal aorta (J:174085)

Mouse Models of Human Disease
OMIM ID Ref(s)
NOT Cerebral Cavernous Malformations 2; CCM2 603284 J:174085





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last database update
01/26/2016
MGI 6.02
The Jackson Laboratory