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Phenotypes Associated with This Genotype
Genotype
MGI:5575662
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 (104 available)
Tg(VAV1-cre)1Graf mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hematopoietic system
• 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
• 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
• develop progressive anemia that is most apparent at 6-12 months of age
• mice develop progressive bone marrow hypocellularity beginning at 6 weeks of age that is still seen at 24 weeks of age
• 1.4- to 2-fold increase in CD71+/Ter119- erythoroid precursor cells in the bone marrow and spleen, indicating impaired erythroid differentiation
• hemoglobin is reduced at between 6 and 12 months of age, but not in mice younger than 6 months
• 6 month old mice show frequent circulating nucleated red cells
• 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
• decrease in CD11b+Gr1+ neutrophils
• decrease in B220+ mature B cells
• decrease in CD11b+Gr1- monocytes
• mice show increased apoptosis and altered cell cycle distribution (decrease in S-phase) of hematopoietic stem cells
• mice show an increase in the frequency and total number of hematopoietic stem cells
• mice develop progressive splenic hypocellularity beginning at 6 weeks of age that is still seen at 24 weeks of age

immune system
• 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
• 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
• decrease in CD11b+Gr1+ neutrophils
• decrease in B220+ mature B cells
• decrease in CD11b+Gr1- monocytes
• 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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
11/05/2019
MGI 6.14
The Jackson Laboratory