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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Mice carrying a R142C Notch 3 knock-in mutation do not develop a CADASIL-like phenotype.

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 position 141, R141C, which corresponds to mutation R142C in mouse NOTCH 3. CADASIL(R142C) mice show no apparent CADASIL-like phenotype after histological and MRI analysis. The NOTCH 3 (R142C) receptor is processed normally and does not appear to accumulate the ectodomain, which has been observed in CADASIL patients. We discuss possible reasons for the different outcomes of the same germline CADASIL mutation in mice and humans.[1]

References

  1. Mice carrying a R142C Notch 3 knock-in mutation do not develop a CADASIL-like phenotype. Lundkvist, J., Zhu, S., Hansson, E.M., Schweinhardt, P., Miao, Q., Beatus, P., Dannaeus, K., Karlström, H., Johansson, C.B., Viitanen, M., Rozell, B., Spenger, C., Mohammed, A., Kalimo, H., Lendahl, U. Genesis (2005) [Pubmed]
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