Mice that are homozygous for the mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. Screening of third generation mice (G3) on standard chow identified a 6 week old female (born 8/14/2002) with a platelet count of 106 x 103 cells/ul, which is approximately 91% lower than controls. This mutant mouse strain may be useful in studies of thrombocytopenia.
Following multidose ethylnitrosourea (ENU) treatments to induce mutations in male founder C57BL/6J mice (Stock No. 000664), a forward genetic screen was utilized to identify phenotypic deviants in complex heart, lung, blood, and sleep disorders, at the Mouse Heart, Lung, Blood, and Sleep Disorders (HLBS) Center at The Jackson Laboratory. hlb219 initially was mapped by crossing to 129S1/SvImJ and BALB/cByJ mice. Mapping identified the location of the mutation in an interval of 14 cM on Chromosome 4, between D4Mit153 and D4Mit52. Sequencing of the candidate gene Mpl, myeloproliferative leukemia virus oncogene, revealed a T to C transition at codon 40 resulting in a change from cysteine to arginine. Heterozygotes were crossed to generate homozygotes. The mice have been maintained on a C57BL/6J background.
|Allele Name||heart, lung and blood, 219|
|Allele Type||Chemically induced (ENU)|
|Gene Symbol and Name||Mpl, myeloproliferative leukemia virus oncogene|
|Strain of Origin||C57BL/6J|
|Molecular Note||DNA sequencing of exons from genomic DNArevealed a single point mutation in the Mpl gene at codon40. The mutation is a T-to-C transition yieldingan amino acid change from a conserved cysteine to an arginine.|