Phenotypes Associated with This Genotype

Genotype
MGI:5575759

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

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

mortality/aging

premature death ( J:208085 )

• surviving mice die between 18 and 42 days after birth

lethality throughout fetal growth and development, incomplete penetrance ( J:208085 )

• some dead embryos are observed between E14.5 and E18.5

neonatal lethality, incomplete penetrance ( J:208085 )

• some mice die within a day after birth

postnatal lethality, incomplete penetrance ( J:208085 )

• surviving mice die between 18 and 42 days after birth

hematopoietic system

abnormal common myeloid progenitor cell morphology ( J:208085 )

• increased granulocyte-macrophage progenitor (GMP) population in the bone marrow of young mice

• decreased megakaryocyte-erythroid progenitor (MEP) population in the bone marrow of young mice

myeloid hyperplasia ( J:208085 )

• multiple cytopenias consistent with myelodysplasia and ineffective hematopoiesis

anemia ( J:208085 )

• in 3 of 9 mice

impaired hematopoiesis ( J:208085 )

• multiple cytopenias consistent with myelodysplasia and ineffective hematopoiesis

increased bone marrow cell number ( J:208085 )

• in some young mice

abnormal megakaryocyte morphology ( J:208085 )

• smaller with hypolobated nuclei in the bone marrow

decreased erythroid progenitor cell number ( J:208085 )

• in the bone marrow of young mice

increased number of Howell-Jolly bodies ( J:208085 )

polychromatophilia ( J:208085 )

thrombocytopenia ( J:208085 )

• in 6 of 9 mice

decreased hematopoietic stem cell number ( J:208085 )

• reduced LSK cells, but not LK cells, in young mice

abnormal leukocyte morphology ( J:208085 )

• increased granulocytic/monocytic populations in the peripheral blood, spleen and bone marrow

abnormal neutrophil morphology ( J:208085 )

• hypersegmented and hyposegmented neutrophils with fine nuclear bridging

increased single-positive T cell number ( J:208085 )

• increased proportion of CD4+ and CD8+ T cells in the spleen

increased monocyte cell number ( J:208085 )

decreased leukocyte cell number ( J:208085 )

• in 3 of 9 mice

decreased lymphocyte cell number ( J:208085 )

decreased B cell number ( J:208085 )

• in the peripheral blood, spleen and bone marrow

decreased spleen red pulp amount ( J:208085 )

small spleen ( J:208085 )

decreased spleen weight ( J:208085 )

• with reduced volume

spleen atrophy ( J:208085 )

abnormal spleen white pulp morphology ( J:208085 )

• lymphoid aggregates

abnormal hematopoietic stem cell physiology ( J:208085 )

• reduced repopulating capacity

growth/size/body

decreased body size ( J:208085 )

decreased body weight ( J:208085 )

vision/eye

anophthalmia ( J:208085 )

cellular

increased apoptosis ( J:208085 )

• increased starvation-induced apoptosis in bone marrow cells

increased cell proliferation ( J:208085 )

• in bone marrow cells

immune system

myeloid hyperplasia ( J:208085 )

• multiple cytopenias consistent with myelodysplasia and ineffective hematopoiesis

abnormal leukocyte morphology ( J:208085 )

• increased granulocytic/monocytic populations in the peripheral blood, spleen and bone marrow

abnormal neutrophil morphology ( J:208085 )

• hypersegmented and hyposegmented neutrophils with fine nuclear bridging

increased single-positive T cell number ( J:208085 )

• increased proportion of CD4+ and CD8+ T cells in the spleen

increased monocyte cell number ( J:208085 )

decreased leukocyte cell number ( J:208085 )

• in 3 of 9 mice

decreased lymphocyte cell number ( J:208085 )

decreased B cell number ( J:208085 )

• in the peripheral blood, spleen and bone marrow

decreased spleen red pulp amount ( J:208085 )

small spleen ( J:208085 )

decreased spleen weight ( J:208085 )

• with reduced volume

spleen atrophy ( J:208085 )

abnormal spleen white pulp morphology ( J:208085 )

• lymphoid aggregates

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