Enu mutagenesis identifies a novel platelet phenotype in a loss-of-function Jak2 allele

PLoS One. 2013 Sep 25;8(9):e75472. doi: 10.1371/journal.pone.0075472. eCollection 2013.

Abstract

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 mice bearing a hemizygous targeted disruption of the Jak2 locus (Jak2(+/-)). Timed pregnancy experiments revealed that Jak2(K915X/K915X) and Jak2(-/-) displayed embryonic lethality; however, Jak2(K915X/K915X) embryos were viable an additional two days compared to Jak2(-/-) embryos. Our data suggest that perturbing JAK2 activation may have unexpected consequences in elevation of platelet number and correspondingly, important implications for treatment of hematological disorders with constitutive Jak2 activity.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Blood Platelets / cytology*
  • Blotting, Western
  • Chromosome Mapping
  • Ethylnitrosourea
  • Fluorouracil
  • Genotype
  • HEK293 Cells
  • Humans
  • Janus Kinase 2 / genetics*
  • Mice
  • Mice, Inbred C57BL
  • Mice, Mutant Strains
  • Mutagenesis / genetics
  • Phenotype*
  • Phenylhydrazines
  • Point Mutation / genetics
  • Sequence Analysis, DNA

Substances

  • Phenylhydrazines
  • phenylhydrazine
  • Jak2 protein, mouse
  • Janus Kinase 2
  • Ethylnitrosourea
  • Fluorouracil