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Phenotypes Associated with This Genotype
Genotype
MGI:5296515
Allelic
Composition
Sh2b3tm1Paw/Sh2b3tm1Paw
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sh2b3tm1Paw mutation (2 available); any Sh2b3 mutation (22 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Sh2b3tm1Paw/Sh2b3tm1Paw mice develop a chronic myeloid leukemia-like myeloproliferative disease

hematopoietic system
• splenomegaly in older mutants is more pronounced than in young mutants, with a disproportionate expansion of myeloid cells
• myeloid cells are expanded in peripheral blood, bone marrow, and spleen and infiltrate into livers
• 5-6-fold increase in percentage of Mac-1+Gr-1+ myeloid cells in the spleen
• older mutants (12-18 months of age) exhibit a 5-fold increase in myeloid cells compared to young mutants and a 9-fold increase compared to older wild-type mice
• spleens of older mutants exhibit extramedullary hematopoiesis with disruption of the normal splenic architecture, due to infiltration of mature myeloid cells into the red pulp along with increased numbers of megakaryocytes
• 2 month old mutants exhibit a 3-fold increase in platelets
• platelet counts in older mutants remain unchanged compared to young mutants, but are elevated compared to wild-type mice
• reduction in B cells in the spleen
• 2 month old mutants exhibit a 3-fold increase in white blood cells and older mice show an even greater elevation
• bone marrow of aged mice exhibits increased numbers of granulocytic and monocytic cells
• older mutants exhibit an increase in neutrophils
• older mutants exhibit a 1.7-fold increase in lymphocyte counts compared to younger mutants
• older mutants exhibit an increase in monocytes

immune system
• splenomegaly in older mutants is more pronounced than in young mutants, with a disproportionate expansion of myeloid cells
• myeloid cells are expanded in peripheral blood, bone marrow, and spleen and infiltrate into livers
• 5-6-fold increase in percentage of Mac-1+Gr-1+ myeloid cells in the spleen
• older mutants (12-18 months of age) exhibit a 5-fold increase in myeloid cells compared to young mutants and a 9-fold increase compared to older wild-type mice
• reduction in B cells in the spleen
• 2 month old mutants exhibit a 3-fold increase in white blood cells and older mice show an even greater elevation
• bone marrow of aged mice exhibits increased numbers of granulocytic and monocytic cells
• older mutants exhibit an increase in neutrophils
• older mutants exhibit a 1.7-fold increase in lymphocyte counts compared to younger mutants
• older mutants exhibit an increase in monocytes

growth/size/body
• splenomegaly in older mutants is more pronounced than in young mutants, with a disproportionate expansion of myeloid cells

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
chronic myeloid leukemia DOID:8552 OMIM:608232
J:161643


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
03/19/2024
MGI 6.23
The Jackson Laboratory