| First Author | Anderson NM | Year | 2013 |
| Journal | PLoS One | Volume | 8 |
| Issue | 9 | Pages | e75472 |
| PubMed ID | 24086539 | Mgi Jnum | J:207740 |
| Mgi Id | MGI:5559437 | Doi | 10.1371/journal.pone.0075472 |
| Citation | Anderson NM, et al. (2013) Enu mutagenesis identifies a novel platelet phenotype in a loss-of-function Jak2 allele. PLoS One 8(9):e75472 |
| abstractText | 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. |
