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Phenotypes Associated with This Genotype
Genotype
MGI:3576739
Allelic
Composition
Sh2d1atm1Cpt/Sh2d1atm1Cpt
Genetic
Background
involves: 129S4/SvJae * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sh2d1atm1Cpt mutation (0 available); any Sh2d1a mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
immune system
• 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
• following exposure to NP-KLH with alpha-GalCer, germinal center B cells fail to exhibit an increase in numbers unlike in control mice
• 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
• increased numbers of CD8+ and CD4+ T cells are found in the spleen and liver after viral infection compared to wild-type mice
• mice fail to exhibit a late primary antibody response on transfer of OT-II CD4+ T cells compared with controls
• 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
• 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
• 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
• 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
• following exposure to NP-KLH with alpha-GalCer, germinal center B cells fail to exhibit an increase in numbers unlike in control mice
• 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
• 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
• increased numbers of CD8+ and CD4+ T cells are found in the spleen and liver after viral infection compared to wild-type mice

Mouse Models of Human Disease
OMIM ID Ref(s)
Lymphoproliferative Syndrome, X-Linked, 1; XLP1 308240 J:97756


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
05/17/2016
MGI 6.03
The Jackson Laboratory