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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Asxl1tm1.1Iaai
targeted mutation 1.1, Iannis Aifantis
MGI:5575656
Summary 4 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
cn1
 		Asxl1tm1.1Iaai/Asxl1tm1.1Iaai
Tg(VAV1-cre)1Graf/0 		involves: 129S/SvEv * C57BL/6 MGI:5575662
cn2
 		Asxl1tm1.1Iaai/Asxl1tm1.1Iaai
Tet2tm1.1Iaai/Tet2tm1.1Iaai
Tg(VAV1-cre)1Graf/0 		involves: 129S/SvEv * C57BL/6 MGI:5575663
cn3
 		Asxl1tm1.1Iaai/Asxl1tm1.1Iaai
Tg(Mx1-cre)1Cgn/0 		involves: 129S/SvEv * C57BL/6 * CBA MGI:5575661
cn4
 		Asxl1tm1.1Iaai/Asxl1tm1.1Iaai
Tet2tm1.1Iaai/Tet2tm1.1Iaai
Tg(Mx1-cre)1Cgn/0 		involves: 129S/SvEv * C57BL/6 * CBA MGI:5575664


Genotype
MGI:5575662
cn1
Allelic
Composition		 Asxl1tm1.1Iaai/Asxl1tm1.1Iaai
Tg(VAV1-cre)1Graf/0
Genetic
Background		 involves: 129S/SvEv * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Asxl1tm1.1Iaai mutation (1 available); any Asxl1 mutation (116 available)
Tg(VAV1-cre)1Graf mutation (1 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
hematopoietic system
abnormal definitive hematopoiesis ( J:208092 )
• increase in the absolute number of immunophenotypically defined hematopoietic stem cells at 6 weeks of age, however a decrease in serial plating in vitro is seen, indicating a defect in self-renewal of hematopoietic stem cells
• transplantation experiments show that hematopoietic stem cells show impaired self-renewal
• transplantation of whole bone marrow from mutants into lethally irradiated recipients results in a lethal hematopoietic disorder
abnormal myelopoiesis ( J:208092 )
• 6 month old mice show dysplasia of circulating myeloid cells
• analysis of sorted myeloid progenitor cells from 6 week old mice shows a decrease in colony output of sorted common myeloid progenitors, granulocyte/macrophage progenitors, and megakaryocyte/erythroid progenitors
anemia ( J:208092 )
• develop progressive anemia that is most apparent at 6-12 months of age
decreased bone marrow cell number ( J:208092 )
• mice develop progressive bone marrow hypocellularity beginning at 6 weeks of age that is still seen at 24 weeks of age
increased erythroid progenitor cell number ( J:208092 )
• 1.4- to 2-fold increase in CD71+/Ter119- erythoroid precursor cells in the bone marrow and spleen, indicating impaired erythroid differentiation
decreased hemoglobin content ( J:208092 )
• hemoglobin is reduced at between 6 and 12 months of age, but not in mice younger than 6 months
increased nucleated erythrocyte cell number ( J:208092 )
• 6 month old mice show frequent circulating nucleated red cells
decreased leukocyte cell number ( J:208092 )
• develop progressive leukopenia that is most apparent at 6-12 months of age
• leukopenia is predominately as a result of decreased B220+ mature B cells, CD11b+Gr1+ neutrophils, and CD11b+Gr1- monocytes
decreased neutrophil cell number ( J:208092 )
• decrease in CD11b+Gr1+ neutrophils
decreased mature B cell number ( J:208092 )
• decrease in B220+ mature B cells
decreased monocyte cell number ( J:208092 )
• decrease in CD11b+Gr1- monocytes
abnormal hematopoietic stem cell morphology ( J:208092 )
• mice show increased apoptosis and altered cell cycle distribution (decrease in S-phase) of hematopoietic stem cells
increased hematopoietic stem cell number ( J:208092 )
• mice show an increase in the frequency and total number of hematopoietic stem cells
decreased splenocyte number ( J:208092 )
• mice develop progressive splenic hypocellularity beginning at 6 weeks of age that is still seen at 24 weeks of age

immune system
abnormal myelopoiesis ( J:208092 )
• 6 month old mice show dysplasia of circulating myeloid cells
• analysis of sorted myeloid progenitor cells from 6 week old mice shows a decrease in colony output of sorted common myeloid progenitors, granulocyte/macrophage progenitors, and megakaryocyte/erythroid progenitors
decreased leukocyte cell number ( J:208092 )
• develop progressive leukopenia that is most apparent at 6-12 months of age
• leukopenia is predominately as a result of decreased B220+ mature B cells, CD11b+Gr1+ neutrophils, and CD11b+Gr1- monocytes
decreased neutrophil cell number ( J:208092 )
• decrease in CD11b+Gr1+ neutrophils
decreased mature B cell number ( J:208092 )
• decrease in B220+ mature B cells
decreased monocyte cell number ( J:208092 )
• decrease in CD11b+Gr1- monocytes
decreased splenocyte number ( J:208092 )
• mice develop progressive splenic hypocellularity beginning at 6 weeks of age that is still seen at 24 weeks of age

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
myelodysplastic syndrome DOID:0050908 OMIM:614286
 J:208092




Genotype
MGI:5575663
cn2
Allelic
Composition		 Asxl1tm1.1Iaai/Asxl1tm1.1Iaai
Tet2tm1.1Iaai/Tet2tm1.1Iaai
Tg(VAV1-cre)1Graf/0
Genetic
Background		 involves: 129S/SvEv * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Asxl1tm1.1Iaai mutation (1 available); any Asxl1 mutation (116 available)
Tet2tm1.1Iaai mutation (2 available); any Tet2 mutation (779 available)
Tg(VAV1-cre)1Graf mutation (1 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
hematopoietic system
hematopoietic system phenotype ( J:208092 )
N
• colony assays of whole bone marrow cells show restored serial-replating capacity of cells and competitive transplantation experiments show restoration of the self-renewal defect seen in single conditional Asxl1 mutants




Genotype
MGI:5575661
cn3
Allelic
Composition		 Asxl1tm1.1Iaai/Asxl1tm1.1Iaai
Tg(Mx1-cre)1Cgn/0
Genetic
Background		 involves: 129S/SvEv * C57BL/6 * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Asxl1tm1.1Iaai mutation (1 available); any Asxl1 mutation (116 available)
Tg(Mx1-cre)1Cgn mutation (7 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
hematopoietic system
abnormal myelopoiesis ( J:208092 )
• 6 month old mice show dysplasia of circulating myeloid cells following pI:pC treatment
extramedullary hematopoiesis ( J:208092 )
• mice treated with polyinosinicpolycytidylic acid (pI:pC) show infiltration of liver with hematopoietic cells, indicating extramedullary hematopoiesis
increased erythroid progenitor cell number ( J:208092 )
• 1.4- to 2-fold increase in CD71+/Ter119- erythoroid precursor cells in the bone marrow and spleen following pI:pC treatment, indicating impaired erythroid differentiation
decreased hemoglobin content ( J:208092 )
• hemoglobin is reduced at between 6 and 12 months of age after pI:pC treatment, but not in younger mice
increased nucleated erythrocyte cell number ( J:208092 )
• following pI:pC treatment, mice show frequent circulating nucleated red cells at 6 months of age
decreased leukocyte cell number ( J:208092 )
• following pI:pC treatment, mice develop progressive leukopenia that is most apparent at 6-12 months of age
• leukopenia is predominately as a result of decreased B220+ mature B cells, CD11b+Gr1+ neutrophils, and CD11b+Gr1- monocytes
decreased neutrophil cell number ( J:208092 )
• decrease in CD11b+Gr1+ neutrophils following pI:pC treatment
decreased mature B cell number ( J:208092 )
• mice show a decrease in B220+ mature B cells following pI:pC treatment
decreased monocyte cell number ( J:208092 )
• decrease in CD11b+Gr1- monocytes following pI:pC treatment

immune system
abnormal myelopoiesis ( J:208092 )
• 6 month old mice show dysplasia of circulating myeloid cells following pI:pC treatment
decreased leukocyte cell number ( J:208092 )
• following pI:pC treatment, mice develop progressive leukopenia that is most apparent at 6-12 months of age
• leukopenia is predominately as a result of decreased B220+ mature B cells, CD11b+Gr1+ neutrophils, and CD11b+Gr1- monocytes
decreased neutrophil cell number ( J:208092 )
• decrease in CD11b+Gr1+ neutrophils following pI:pC treatment
decreased mature B cell number ( J:208092 )
• mice show a decrease in B220+ mature B cells following pI:pC treatment
decreased monocyte cell number ( J:208092 )
• decrease in CD11b+Gr1- monocytes following pI:pC treatment

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
myelodysplastic syndrome DOID:0050908 OMIM:614286
 J:208092




Genotype
MGI:5575664
cn4
Allelic
Composition		 Asxl1tm1.1Iaai/Asxl1tm1.1Iaai
Tet2tm1.1Iaai/Tet2tm1.1Iaai
Tg(Mx1-cre)1Cgn/0
Genetic
Background		 involves: 129S/SvEv * C57BL/6 * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Asxl1tm1.1Iaai mutation (1 available); any Asxl1 mutation (116 available)
Tet2tm1.1Iaai mutation (2 available); any Tet2 mutation (779 available)
Tg(Mx1-cre)1Cgn mutation (7 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
premature death ( J:208092 )
• 40% of mice treated with polyinosinicpolycytidylic acid (pI:pC) at 4 weeks of life die by 50 weeks of age

hematopoietic system
abnormal myelopoiesis ( J:208092 )
• transplantation of bone marrow from mutants into lethally irradiated CD45.1 recipient mice that were treated with pI:pC results in a myelodysplastic syndrome and mice exhibit lower white blood cell counts and hematocrit, presence of dysplastic erythroid precursors, dysplastic myloid cells, and increased extramedullary hematopoiesis

immune system
abnormal myelopoiesis ( J:208092 )
• transplantation of bone marrow from mutants into lethally irradiated CD45.1 recipient mice that were treated with pI:pC results in a myelodysplastic syndrome and mice exhibit lower white blood cell counts and hematocrit, presence of dysplastic erythroid precursors, dysplastic myloid cells, and increased extramedullary hematopoiesis




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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory