Article
Mice carrying a R142C Notch 3 knock-in mutation do not develop a CADASIL-like phenotype.
Genesis (New York, N.Y. : 2000) - 1 Jan 2005
Lundkvist Johan, Zhu Shunwei, Hansson Emil M, Schweinhardt Petra, Miao Qing, Beatus Paul, Dannaeus Karin, Karlström Helena, Johansson Clas B, Viitanen Matti, Rozell Björn, Spenger Christian, Mohammed Abdul, Kalimo Hannu, Lendahl Urban
Abstract excerpt
CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy, MIM 125310) is a genetic vascular dementia disease that is linked to missense mutations, small in-frame deletions, and splice site mutations in the human Notch 3 gene. Here we describe the generation of a mouse knockin model for one of the most prevalent CADASIL mutations, an arginine to cysteine transition at...
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