Phenotypes Associated with This Genotype

Genotype
MGI:5085321

• Allelic Composition: Ccm2^tm2.1Sbn/Ccm2^tm2.1Sbn; Tg(Mx1-cre)1Cgn/0
• Genetic Background: involves: C57BL/6 * CBA

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

premature death ( J:174085 )

• 3 of 6 mice treated with pIpC at 6 - 8 weeks of age died suddenly between 7 - 8 months of age

cardiovascular system

abnormal brain vasculature morphology ( J:174085 )

• 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

intracranial hemorrhage ( J:174085 )

• 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

cerebellum hemorrhage ( J:174085 )

• larger hemorrhages were visible most often in the cerebrum and cerebellum

intracerebral hemorrhage ( J:174085 )

• larger hemorrhages were visible most often in the cerebrum and cerebellum

impaired blood-brain barrier function ( J:174085 )

• astrocyte abnormalities indicate an impaired blood-brain barrier in the region of cerebral cavernous malformation like lesions in pIpC treated mice

nervous system

seizures ( 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

abnormal brain vasculature morphology ( J:174085 )

• 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

intracranial hemorrhage ( J:174085 )

• 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

cerebellum hemorrhage ( J:174085 )

• larger hemorrhages were visible most often in the cerebrum and cerebellum

intracerebral hemorrhage ( J:174085 )

• larger hemorrhages were visible most often in the cerebrum and cerebellum

impaired blood-brain barrier function ( J:174085 )

• astrocyte abnormalities indicate an impaired blood-brain barrier in the region of cerebral cavernous malformation like lesions in pIpC treated mice

microgliosis ( J:174085 )

• microglia were recruited to cerebral cavernous malformation like lesions

abnormal astrocyte morphology ( 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

behavior/neurological

ataxia ( J:174085 )

• in 1 mouse, treated with pIpC at 6 - 8 weeks of age, at over 7 months of age

seizures ( 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

hematopoietic system

microgliosis ( J:174085 )

• microglia were recruited to cerebral cavernous malformation like lesions

immune system

microgliosis ( J:174085 )

• 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