Phenotypes Associated with This Genotype

Genotype
MGI:3036915

• Allelic Composition: Sh2d1a^tm1Pls/Sh2d1a^tm1Pls
• Genetic Background: either: 129S6/SvEvTac or (involves: 129S6/SvEvTac * C57BL/6)

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

cellular

increased T cell proliferation ( J:70032 )

♀ • tendency for T-cell proliferation to be increased even in the absence of infection

hematopoietic system

increased T cell proliferation ( J:70032 )

♀ • tendency for T-cell proliferation to be increased even in the absence of infection

abnormal lymphocyte cell number ( J:70032 )

♀ • 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

abnormal T-helper 1 cell morphology ( J:70032 )

♀ • biased toward the production of the Th1 cytokines Il-2 and IFN-gamma

abnormal T-helper 2 cell morphology ( J:70032 )

♀ • biased toward decreased production of the Th2 cytokine Il-4

decreased IgE level ( J:70032 )

♀ • although levels of IgM, IgG, and IgA were normal, IgE levels were reduced

immune system

increased T cell proliferation ( J:70032 )

♀ • tendency for T-cell proliferation to be increased even in the absence of infection

abnormal lymphocyte cell number ( J:70032 )

♀ • 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

abnormal T-helper 1 cell morphology ( J:70032 )

♀ • biased toward the production of the Th1 cytokines Il-2 and IFN-gamma

abnormal T-helper 2 cell morphology ( J:70032 )

♀ • biased toward decreased production of the Th2 cytokine Il-4

decreased IgE level ( J:70032 )

♀ • although levels of IgM, IgG, and IgA were normal, IgE levels were reduced

increased susceptibility to infection ( J:70032 )

♀

increased susceptibility to parasitic infection ( J:70032 )

♀ • elevated T-cell response to Toxoplasma gondii infection

♀ • lower titers of Ig isotypes directed against Toxoplasma antigens

increased susceptibility to Riboviria infection ( J:70032 )

♀ • 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		DO ID	OMIM ID(s)	Ref(s)
X-linked lymphoproliferative syndrome 1		DOID:0060705	OMIM:308240	J:70032