Article
An ENU mutagenesis-derived mouse model with a dominant Jak1 mutation resembling phenotypes of systemic autoimmune disease.
The American journal of pathology - 1 Aug 2013
Sabrautzki Sibylle, Janas Eva, Lorenz-Depiereux Bettina, Calzada-Wack Julia, Aguilar-Pimentel Juan A, Rathkolb Birgit, Adler Thure, Cohrs Christian, Hans Wolfgang, Diener Susanne, Fuchs Helmut, Gailus-Durner Valerie, Busch Dirk H, Höfler Heinz, Ollert Markus, Strom Tim M, Wolf Eckhard, Neff Frauke, Hrabě de Angelis Martin
Abstract excerpt
Within the Munich, Germany, N-ethyl-N-nitrosourea mouse mutagenesis program, we isolated a dominant Jak1 mouse model resembling phenotypic characteristics related to autoimmune disease. Chromosomal sequencing revealed a new Jak1 (p.Ser645Pro) point mutation at the conserved serine of the pseudokinase domain, corresponding to a somatic human mutation (p.Ser646Phe) inducing a constitutive activation of the Janus...
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