Enu mutagenesis identifies a novel platelet phenotype in a loss-of-function Jak2 allele.
Utilizing ENU mutagenesis, we identified a willy wonka book week costume 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 tr