Phenotypes associated with this allele

• Allele Symbol: Asxl1^tm1.1Mjxu
• Allele Name: targeted mutation 1.1, Mingjiang Xu
• Allele ID: MGI:5575668
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Asxl1^tm1.1Mjxu/Asxl1^tm1.1Mjxu	involves: 129 * C57BL/6	MGI:5575759
ht2	Asxl1^tm1.1Mjxu/Asxl1^+	involves: 129 * C57BL/6	MGI:5575760

Genotype
MGI:5575759

hm1

• 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

Genotype
MGI:5575760

ht2

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

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