Map3k3 I441M Knock-In Mouse Model of Cerebral Cavernous Malformations

Abstract excerpt

BACKGROUND: Cerebral cavernous malformations (CCMs) refer to vascular dysplasia primarily found in the brain, affecting ≈0.5% of the population. A somatic Map3k3 I441M mutation has been found in ≈40% of patients with sporadic CCMs, which were typically accompanied by somatic gain-of-function mutations in PIK3CA . Although mouse models of adeno-associated virus-BR1–mediated mutant overexpression have been...

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