Phenotypes Associated with This Genotype

Genotype
MGI:5575760

• Allelic Composition: Asxl1^tm1.1Mjxu/Asxl1⁺
• Genetic Background: involves: 129 * C57BL/6

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

mortality/aging

premature death ( J:208085 )

• as a result of severe myeloid malignancies in some mice

hematopoietic system

abnormal blood cell morphology/development ( J:208085 )

• decreased CFU-Cs in the bone marrow and spleen of adult mice with myelodysplastic syndrome/myeloproliferative neoplasms

• increased CFU-Cs in the bone marrow and spleen of adult mice with myelodysplastic syndrome-like disease

abnormal myelopoiesis ( J:208085 )

• more severe dysplasia of myeloid lineage in adult mice compared with young mice

anemia ( J:208085 )

• more so in adult than young mice

abnormal bone marrow cell morphology/development ( J:208085 )

• increased portion of myeloid cells with relative decrease in erythroid islands in the bone marrow of adult mice

abnormal common myeloid progenitor cell morphology ( J:208085 )

• increased granulocyte-macrophage progenitor (GMP) population in the bone marrow of adult mice with myelodysplastic syndrome/myeloproliferative neoplasms

• decreased megakaryocyte-erythroid progenitor (MEP) population in the bone marrow of young mice adult mice with myelodysplastic syndrome/myeloproliferative neoplasms

• however, adult mice that display myelodysplastic syndrome-like disease exhibit normal GMP and MEP cell numbers

polychromatophilia ( J:208085 )

• in the peripheral blood

thrombocytopenia ( J:208085 )

• more so in adult than young mice

decreased hematopoietic stem cell number ( J:208085 )

• decreased LSK and LK cells in adult mice with myelodysplastic syndrome-like disease

increased hematopoietic stem cell number ( J:208085 )

• increased LSK and LK cells in adult mice with myelodysplastic syndrome/myeloproliferative neoplasms

abnormal leukocyte morphology ( J:208085 )

• increased granulocytic/monocytic populations in spleen and bone marrow

abnormal neutrophil morphology ( J:208085 )

• hypogranulated in the peripheral blood

• hypersegmented and hyposegmented neutrophils with fine nuclear bridging in the peripheral blood

decreased neutrophil cell number ( J:208085 )

• in 4 of 18 adult mice

decreased leukocyte cell number ( J:208085 )

• in some mice

decreased B cell number ( J:208085 )

• in the spleen and bone marrow

increased leukocyte cell number ( J:208085 )

• in some mice

increased monocyte cell number ( J:208085 )

• in 4 of 18 adult mice

abnormal spleen morphology ( J:208085 )

• with increased proportion of myeloid cells

enlarged spleen ( J:208085 )

• in some mice

abnormal neutrophil physiology ( J:208085 )

• apoptotic in the peripheral blood

liver/biliary system

abnormal liver morphology ( J:208085 )

• perivascular myeloid cell infiltration in the liver

enlarged liver ( J:208085 )

• in some mice

neoplasm

increased leukemia incidence ( J:208085 )

• in some mice

increased malignant tumor incidence ( J:208085 )

• mice develop a spectrum of myeloid malignancies

increased sarcoma incidence ( J:208085 )

• myeloid sarcoma in the uterus of 1 mouse

cellular

increased apoptosis ( J:208085 )

• increased starvation-induced apoptosis in bone marrow cells

increased cell proliferation ( J:208085 )

• in bone marrow cells

immune system

abnormal myelopoiesis ( J:208085 )

• more severe dysplasia of myeloid lineage in adult mice compared with young mice

abnormal leukocyte morphology ( J:208085 )

• increased granulocytic/monocytic populations in spleen and bone marrow

abnormal neutrophil morphology ( J:208085 )

• hypogranulated in the peripheral blood

• hypersegmented and hyposegmented neutrophils with fine nuclear bridging in the peripheral blood

decreased neutrophil cell number ( J:208085 )

• in 4 of 18 adult mice

decreased leukocyte cell number ( J:208085 )

• in some mice

decreased B cell number ( J:208085 )

• in the spleen and bone marrow

increased leukocyte cell number ( J:208085 )

• in some mice

increased monocyte cell number ( J:208085 )

• in 4 of 18 adult mice

abnormal spleen morphology ( J:208085 )

• with increased proportion of myeloid cells

enlarged spleen ( J:208085 )

• in some mice

abnormal neutrophil physiology ( J:208085 )

• apoptotic in the peripheral blood

growth/size/body

enlarged liver ( J:208085 )

• in some mice

enlarged spleen ( J:208085 )

• in some mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
myelodysplastic syndrome		DOID:0050908	OMIM:614286	J:208085