Article
Enu mutagenesis identifies a novel platelet phenotype in a loss-of-function Jak2 allele.
PloS one - 1 Jan 2013
Anderson Nicole M, Javadi Mojib, Berndl Elizabeth, Berberovic Zorana, Bailey Monica L, Huang Kai, Flenniken Ann M, Osborne Lucy R, Adamson S Lee, Rossant Janet, Carter-Su Christin, Wang Chen, McNagny Kelly M, Paulson Robert F, Minden Mark D, Stanford William L, Barber Dwayne L
Abstract excerpt
Utilizing ENU mutagenesis, we identified a mutant mouse with elevated platelets. Genetic mapping localized the mutation to an interval on chromosome 19 that encodes the Jak2 tyrosine kinase. We identified a A3056T mutation resulting in a premature stop codon within exon 19 of Jak2 (Jak2(K915X)), resulting in a protein truncation and functionally inactive enzyme. This novel platelet phenotype was also observed in...
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