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Phenotypes Associated with This Genotype
Genotype
MGI:3036915
Allelic
Composition
Sh2d1atm1Pls/Sh2d1atm1Pls
Genetic
Background
either: 129S6/SvEvTac or (involves: 129S6/SvEvTac * C57BL/6)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sh2d1atm1Pls mutation (3 available); any Sh2d1a mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hematopoietic system
• although lymphocyte numbers were generally normal, occasional animals had increased T cell and NK cell numbers together with decreased B cell numbers in the spleen
• biased toward the production of the Th1 cytokines Il-2 and IFN-gamma
• biased toward decreased production of the Th2 cytokine Il-4
• although levels of IgM, IgG, and IgA were normal, IgE levels were reduced
• tendency for T-cell proliferation to be increased even in the absence of infection

immune system
• although lymphocyte numbers were generally normal, occasional animals had increased T cell and NK cell numbers together with decreased B cell numbers in the spleen
• biased toward the production of the Th1 cytokines Il-2 and IFN-gamma
• biased toward decreased production of the Th2 cytokine Il-4
• although levels of IgM, IgG, and IgA were normal, IgE levels were reduced
• tendency for T-cell proliferation to be increased even in the absence of infection
• elevated T-cell response to Toxoplasma gondii infection
• lower titers of Ig isotypes directed against Toxoplasma antigens
• increased T-cell response to infection with lymphocyte choriomeningitis virus (LCMV)
• Elevated activity of CD8+ cytotoxic T lymphocytes in spleen
• CD4+ cells also increased 2-3X
• decrease in antibody secreting cells in spleen and bone marrow
• more virulent strains led to increased morbidity

Mouse Models of Human Disease
OMIM ID Ref(s)
Lymphoproliferative Syndrome, X-Linked, 1; XLP1 308240 J:70032


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
08/17/2016
MGI 6.05
The Jackson Laboratory