Phenotypic characterization of murine models of cerebral cavernous malformations

HA Zeineddine, R Girard, L Saadat, L Shen… - Laboratory …, 2019 - nature.com
Cerebral cavernous malformations (CCMs) are clusters of dilated capillaries that affect
around 0.5% of the population. CCMs exist in two forms, sporadic and familial. Mutations in
three documented genes, KRIT1 (CCM1), CCM2, and PDCD10 (CCM3), cause the
autosomal dominant form of the disease, and somatic mutations in these same genes
underlie lesion development in the brain. Murine models with constitutive or induced loss of
respective genes have been applied to study disease pathobiology and therapeutic …

Novel murine models of cerebral cavernous malformations

MR Detter, R Shenkar, CR Benavides, CA Neilson… - Angiogenesis, 2020 - Springer
Cerebral cavernous malformations (CCMs) are ectatic capillary-venous malformations that
develop in approximately 0.5% of the population. Patients with CCMs may develop
headaches, focal neurologic deficits, seizures, and hemorrhages. While symptomatic CCMs,
depending upon the anatomic location, can be surgically removed, there is currently no
pharmaceutical therapy to treat CCMs. Several mouse models have been developed to
better understand CCM pathogenesis and test therapeutics. The most common mouse …