The fact that Rps12KO/+ mice exhibit fully-penetrant pancytopenia with a severe bone marrow failure phenotype, in addition to the erythropoiesis defect, raises the possibility that Rps12 might not have been found mutated in DBA patients due to a more severe human phenotype of Rps12 mutation that is not classified as DBA. The gene discussed is RPS12; the disease is Diamond-Blackfan anemia.