Modeling GATA2 Deficiency in Mice: The R396Q Mutation Disrupts Normal Hematopoiesis

While mutant mice exhibited mild defects in peripheral blood, they displayed significant hematopoietic abnormalities in the bone marrow, including a reduction in hematopoietic stem cell function and intrinsic biases toward specific stem cell subsets that differed from previous models of GATA2 loss.