Phenotypes Associated with This Genotype

Genotype
MGI:3576739

• Allelic Composition: Sh2d1a^tm1Cpt/Sh2d1a^tm1Cpt
• Genetic Background: involves: 129S4/SvJae * C57BL/6

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

cellular

increased T cell proliferation ( J:97756 )

♀ • increased numbers of CD8+ and CD4+ T cells are found in the spleen and liver after viral infection compared to wild-type mice

immune system

increased T cell proliferation ( J:97756 )

♀ • increased numbers of CD8+ and CD4+ T cells are found in the spleen and liver after viral infection compared to wild-type mice

decreased NK T cell number ( J:189126 )

♀ • nearly absent in the thymus, spleen and liver

♀ • Background Sensitivity: reduction in NK T cells in mice on a background with C57BL/6 is greater than in mice on a background with BALB/c

abnormal germinal center B cell physiology ( J:189126 )

♀ • following exposure to NP-KLH with alpha-GalCer, germinal center B cells fail to exhibit an increase in numbers unlike in control mice

abnormal NK T cell physiology ( J:189126 )

♀ • Background Sensitivity: NK T cells from mice on a background with C57BL/6 fail to exhibit a response to NP-KLH with alpha-GalCer unlike cells from mice on a background with BALB/c

abnormal humoral immune response ( J:189126 )

♀ • mice fail to exhibit a late primary antibody response on transfer of OT-II CD4+ T cells compared with controls

abnormal immunoglobulin level ( J:189126 )

♀ • Background Sensitivity: following exposure to NP-KLH with alpha-GalCer, mice on a background with C57BL/6 fail to exhibit an increase in anti-NP IgG unlike mice on a background with BALB/c

abnormal cytokine secretion ( J:97756 )

♀ • IFNG secretion by splenic and hepatic CD8+ T cells is increased after viral infection compared to wild-type mice

♀ • with anti-CD3 stimulation under neutral conditions mutant T cell produce 12-fold more INFG

increased susceptibility to Riboviria infection ( J:97756 )

♀ • 14 days after infection with a hepatotropic strain of lymphocytic choriomeningitis virus homozygotes had all died, whereas only 30% of wild-type littermates had died

hematopoietic system

increased T cell proliferation ( J:97756 )

♀ • increased numbers of CD8+ and CD4+ T cells are found in the spleen and liver after viral infection compared to wild-type mice

decreased NK T cell number ( J:189126 )

♀ • nearly absent in the thymus, spleen and liver

♀ • Background Sensitivity: reduction in NK T cells in mice on a background with C57BL/6 is greater than in mice on a background with BALB/c

abnormal germinal center B cell physiology ( J:189126 )

♀ • following exposure to NP-KLH with alpha-GalCer, germinal center B cells fail to exhibit an increase in numbers unlike in control mice

abnormal immunoglobulin level ( J:189126 )

♀ • Background Sensitivity: following exposure to NP-KLH with alpha-GalCer, mice on a background with C57BL/6 fail to exhibit an increase in anti-NP IgG unlike mice on a background with BALB/c

abnormal NK T cell physiology ( J:189126 )

♀ • Background Sensitivity: NK T cells from mice on a background with C57BL/6 fail to exhibit a response to NP-KLH with alpha-GalCer unlike cells from mice on a background with BALB/c

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
X-linked lymphoproliferative syndrome 1		DOID:0060705	OMIM:308240	J:97756