Tg(CMA1-KIT*D816V)#Libl

This transgene comprises 571 bp of upstream flanking sequence, containing the promoter, from the baboon chimase 1, mast cell gene (delta571-bchm) joined to a human KIT proto-oncogene cDNA encoding the S715 variant of the KIT isoform that lacks the GNNK sequence, mutated to replace aspartic acid at amino acid position 816 with valine (D816V), followed by the SV40 late region polyadenylation signal. The D816V mutation, which resides in the catalytic domain of the KIT protein, results in its constitutive phosphorylation and activation. This mutation often is associated with systemic mastocytosis (SM) and some other human hematologic malignancies. The transgene copy number in this line has been estimated as 1-2 by Southern blot analysis. Transgene derived transcripts are detected by RT-PCR analysis in various tissues, notably heart and spleen, and in bone marrow derived mast cells (BMMCs), but not in total bone marrow or in highly purified T or B lymphocytes of transgenic mice. Mouse lines descended from four transgenic founders, designated lines 2, 8, 11 and 16, were generated. The pound symbol (#) is used when no line is specified and/or lines are pooled. (J:106826)