Phenotypes Associated with This Genotype

Genotype
MGI:4357766

• Allelic Composition: Tg(Vav1-NUP98/HOXD13)C1Apla/0
• Genetic Background: FVB/N-Tg(Vav1-NUP98/HOXD13)C1Apla

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

premature death ( J:107446 )

• mice do not survive past 14 months, displaying a spectrum of hematologic malignancies at time of death, with individual mice exhibiting various leukemias or myelodysplastic syndrome (MDS)

hematopoietic system

abnormal definitive hematopoiesis ( J:107446 )

• peripheral blood cytopenia and dysplasia are observed in mutants

anemia ( J:107446 )

• observed in contrast to littermate controls at 4 to 7 months

abnormal bone marrow cell morphology/development ( J:107446 )

• bone marrow shows increased apoptosis compared to control littermates at 5 months

increased bone marrow cell number ( J:107446 )

• bone marrow (from tibia or femur) is hypercellular (total number of nucleated cells) in some mice at 5 months

abnormal megakaryocyte morphology ( J:107446 )

• dysplastic megakaryocytes with hypolobulated nuclei and increased nuclear-cytoplasmic ratios are observed in bone marrow of mutants but not in controls at 5 months

abnormal erythroid progenitor cell morphology ( J:107446 )

• dysplastic multinucleated erythroblasts are observed bone marrow of mutants at 5 months but not in controls; some erythroblasts with clefted nuclei are observed

increased erythroblast number ( J:107446 )

• numbers of erythroblasts in bone marrow is higher than in controls

increased mean corpuscular volume ( J:107446 )

• mutants show trend (not statistically significant) to increased mean cell volume

increased nucleated erythrocyte cell number ( J:107446 )

• circulating nucleated red blood cells are seen seen in peripheral blood smears from animals at 4 to 7 months

anisocytosis ( J:107446 )

• seen in peripheral blood smears from animals at 4 to 7 months

poikilocytosis ( J:107446 )

• seen in peripheral blood smears from animals at 4 to 7 months

polychromatophilia ( J:107446 )

• seen in peripheral blood smears from animals at 4 to 7 months

abnormal neutrophil morphology ( J:107446 )

• hypersegmented neutrophils are seen in peripheral blood smears from animals at 4 to 7 months

giant platelets ( J:107446 )

• giant platelets are seen in peripheral blood smears from animals at 4 to 7 months

decreased leukocyte cell number ( J:107446 )

• compared to littermate controls at 4 to 7 months

neoplasm

increased leukemia incidence ( J:107446 )

• at time of death (around or before 14 months), some animals develop megakaryocytic leukemia, erythroid leukemia, undifferentiated leukemia, myeloid leukemia with maturation, and precursor-T lymphoblastic lymphoma/leukemia (pre-T LBL) or pre-malignant myelodysplastic syndrome (MDS)

immune system

abnormal neutrophil morphology ( J:107446 )

• hypersegmented neutrophils are seen in peripheral blood smears from animals at 4 to 7 months

decreased leukocyte cell number ( J:107446 )

• compared to littermate controls at 4 to 7 months

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
myelodysplastic syndrome		DOID:0050908	OMIM:614286	J:107446