Phenotypes associated with this allele

• Allele Symbol: Sh2b3^em1Cgv
• Allele Name: endonuclease-mediated mutation 1, Carola Vinuesa
• Allele ID: MGI:7863632
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Sh2b3^em1Cgv/Sh2b3^em1Cgv	C57BL/6NCrl-Sh2b3^em1Cgv	MGI:8277034
ht2	Sh2b3^em1Cgv/Sh2b3^+	C57BL/6NCrl-Sh2b3^em1Cgv	MGI:8277035

Genotype
MGI:8277034

hm1

• Allelic Composition: Sh2b3^em1Cgv/Sh2b3^em1Cgv
• Genetic Background: C57BL/6NCrl-Sh2b3^em1Cgv

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

immune system

enlarged spleen ( J:358257 )

• mild splenomegaly

spleen hyperplasia ( J:358257 )

• increase in spleen cellularity

abnormal T cell differentiation ( J:358257 )

• decrease in CD4/CD8 T cell ratios in the peripheral blood, with a slight trend in decrease in the spleen

abnormal B cell number ( J:358257 )

• increase of B cell precursors as a percentage of bone marrow B cells

decreased mature B cell number ( J:358257 )

• while the frequency of mature B cells is decreased, total numbers remain elevated as a result of the overall increase in splenic B cells

increased leukocyte cell number ( J:358257 )

• increase in peripheral blood leukocyte count

increased lymphocyte cell number ( J:358257 )

• increase in peripheral blood lymphocyte count

increased B cell number ( J:358257 )

• total number of B cells is increased

• however, frequency of splenic B cells is unchanged

increased transitional stage B cell number ( J:358257 )

• increase in frequency and total number of splenic transitional B cells; this increase occurs primarily within the transitional 1 (T1) B cell compartment with a milder increase in transitional 2 (T2) and transitional 3 (T3) B cells

increased pre-B cell number ( J:358257 )

• cell-intrinsic increase of pre-B cell percentages but no differences in pre-pro B or pro-B cells

increased T cell number ( J:358257 )

• total number of T cells is increased

• however, frequency of splenic T cells is unchanged

increased double-negative T cell number ( J:358257 )

• increase in percentages of double negative T cells in peripheral blood

increased effector memory CD8-positive, alpha-beta T cell number ( J:358257 )

• among CD8 T cells, mice show increased percentages of effector memory CD8 T cells in the peripheral blood

increased activated T cell number ( J:358257 )

• mice show increased activated and/or effector T cells

abnormal spleen marginal zone morphology ( J:358257 )

• decrease in marginal zone (MZ) B cells; this change is not due to a reduction of MZ B cell numbers but an increase in the other mature B cell subsets

abnormal B cell activation ( J:358257 )

• treatment of transitional or mature B cells, but not immature cells from bone marrow, with IL-4 increases the survival of B cells compared to control B cells indicating that B cells are hyperresponsive to IL-4-induced rescue

increased susceptibility to autoimmune disorder ( J:358257 )

• 12-week-old mice injected with pristane, an inducer of lupus-like disease, develop higher titers of anti-DNA IgG 10 weeks after pristane treatment, however this difference is lost by 20 weeks, indicating that sensitized mice show accelerated autoimmunity

• however, under regular conditions mice do not show increased levels of ANAs or anti-DNA antibodies indicating that mice do not develop autoimmunity spontaneously

hematopoietic system

enlarged spleen ( J:358257 )

• mild splenomegaly

spleen hyperplasia ( J:358257 )

• increase in spleen cellularity

abnormal T cell differentiation ( J:358257 )

• decrease in CD4/CD8 T cell ratios in the peripheral blood, with a slight trend in decrease in the spleen

abnormal B cell number ( J:358257 )

• increase of B cell precursors as a percentage of bone marrow B cells

decreased mature B cell number ( J:358257 )

• while the frequency of mature B cells is decreased, total numbers remain elevated as a result of the overall increase in splenic B cells

increased leukocyte cell number ( J:358257 )

• increase in peripheral blood leukocyte count

increased lymphocyte cell number ( J:358257 )

• increase in peripheral blood lymphocyte count

increased B cell number ( J:358257 )

• total number of B cells is increased

• however, frequency of splenic B cells is unchanged

increased transitional stage B cell number ( J:358257 )

• increase in frequency and total number of splenic transitional B cells; this increase occurs primarily within the transitional 1 (T1) B cell compartment with a milder increase in transitional 2 (T2) and transitional 3 (T3) B cells

increased pre-B cell number ( J:358257 )

• cell-intrinsic increase of pre-B cell percentages but no differences in pre-pro B or pro-B cells

increased T cell number ( J:358257 )

• total number of T cells is increased

• however, frequency of splenic T cells is unchanged

increased double-negative T cell number ( J:358257 )

• increase in percentages of double negative T cells in peripheral blood

increased effector memory CD8-positive, alpha-beta T cell number ( J:358257 )

• among CD8 T cells, mice show increased percentages of effector memory CD8 T cells in the peripheral blood

increased activated T cell number ( J:358257 )

• mice show increased activated and/or effector T cells

abnormal spleen marginal zone morphology ( J:358257 )

• decrease in marginal zone (MZ) B cells; this change is not due to a reduction of MZ B cell numbers but an increase in the other mature B cell subsets

abnormal B cell activation ( J:358257 )

• treatment of transitional or mature B cells, but not immature cells from bone marrow, with IL-4 increases the survival of B cells compared to control B cells indicating that B cells are hyperresponsive to IL-4-induced rescue

growth/size/body

enlarged spleen ( J:358257 )

• mild splenomegaly

spleen hyperplasia ( J:358257 )

• increase in spleen cellularity

Genotype
MGI:8277035

ht2

• Allelic Composition: Sh2b3^em1Cgv/Sh2b3⁺
• Genetic Background: C57BL/6NCrl-Sh2b3^em1Cgv

immune system

abnormal T cell differentiation ( J:358257 )

• decrease in CD4/CD8 T cell ratios in the peripheral blood

increased double-negative T cell number ( J:358257 )

• increase in percentages of double negative T cells in peripheral blood

increased CD4-positive, CD25-positive, alpha-beta regulatory T cell number ( J:358257 )

• within CD4 T cells, mice show increased percentages and total numbers of regulatory T cells in the spleens

increased effector memory CD4-positive, alpha-beta T cell number ( J:358257 )

• within CD4 T cells, mice show increased percentages and total numbers of effector memory CD4 T cells in the spleens

increased effector memory CD8-positive, alpha-beta T cell number ( J:358257 )

• among CD8 T cells, mice show increased percentages of effector memory CD8 T cells in the peripheral blood

abnormal spleen marginal zone morphology ( J:358257 )

• intermediate decrease in marginal zone (MZ) B cells; this change is not due to a reduction of MZ B cell numbers but an increase in the other mature B cell subsets

abnormal B cell activation ( J:358257 )

• treatment of transitional or mature B cells with IL-4 increases the survival of B cells compared to control B cells

hematopoietic system

abnormal T cell differentiation ( J:358257 )

• decrease in CD4/CD8 T cell ratios in the peripheral blood

increased double-negative T cell number ( J:358257 )

• increase in percentages of double negative T cells in peripheral blood

increased CD4-positive, CD25-positive, alpha-beta regulatory T cell number ( J:358257 )

• within CD4 T cells, mice show increased percentages and total numbers of regulatory T cells in the spleens

increased effector memory CD4-positive, alpha-beta T cell number ( J:358257 )

• within CD4 T cells, mice show increased percentages and total numbers of effector memory CD4 T cells in the spleens

increased effector memory CD8-positive, alpha-beta T cell number ( J:358257 )

• among CD8 T cells, mice show increased percentages of effector memory CD8 T cells in the peripheral blood

abnormal spleen marginal zone morphology ( J:358257 )

• intermediate decrease in marginal zone (MZ) B cells; this change is not due to a reduction of MZ B cell numbers but an increase in the other mature B cell subsets

abnormal B cell activation ( J:358257 )

• treatment of transitional or mature B cells with IL-4 increases the survival of B cells compared to control B cells