Symbol Name ID |
Sh2d1a
SH2 domain containing 1A MGI:1328352 |
! | Indicates phenotype varies with strain background. |
Darker colors indicate more annotations |
Human Phenotypes | Reduced natural killer cell activity |
Decreased circulating IgG level |
Increased circulating IgM level |
Decreased circulating antibody level |
Dysgammaglobulinemia |
Pancytopenia |
Aplastic anemia |
Neutropenia |
Abnormal B cell count |
Abnormal T cell count |
Lymphocytosis |
Hemophagocytosis |
Thrombocytopenia |
Lymphoma |
Burkitt lymphoma |
Splenomegaly |
Disease(s) Associated with SH2D1A | ||||||||||||||||
X-linked lymphoproliferative syndrome 1 |
Mouse Phenotypes | increased T cell proliferation |
decreased transitional stage B cell number |
abnormal lymphocyte cell number |
decreased germinal center B cell number |
increased B cell number |
decreased CD4-positive, alpha-beta T cell number |
increased CD8-positive, alpha-beta T cell number |
decreased NK T cell number |
absent NK T cells |
abnormal germinal center B cell morphology |
abnormal long lived plasma cell morphology |
abnormal T-helper 1 cell morphology |
abnormal T-helper 2 cell morphology |
abnormal NK T cell morphology |
decreased spleen germinal center number |
abnormal germinal center B cell physiology |
abnormal immunoglobulin level |
decreased IgE level |
decreased IgG1 level |
decreased IgG2a level |
increased IgG2a level |
decreased IgG2b level |
decreased IgG3 level |
decreased IgG level |
decreased IgM level |
decreased immunoglobulin level |
abnormal NK cell physiology |
impaired natural killer cell mediated cytotoxicity |
increased natural killer cell mediated cytotoxicity |
abnormal CD4-positive, alpha-beta T cell physiology |
abnormal cytotoxic T cell physiology |
abnormal NK T cell physiology |
abnormal memory T cell physiology |
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Availability | Mouse Genotype | |||||||||||||||||||||||||||||||||
Sh2d1atm1Cpt/Sh2d1atm1Cpt | ! | ! | ! | |||||||||||||||||||||||||||||||
Sh2d1atm1Lyin/Sh2d1atm1Lyin | ||||||||||||||||||||||||||||||||||
Sh2d1atm1Pls/Sh2d1atm1Pls | ||||||||||||||||||||||||||||||||||
Sh2d1atm1Vei/Sh2d1atm1Vei | ||||||||||||||||||||||||||||||||||
Sh2d1atm2.1Vei/Sh2d1atm2.1Vei | ||||||||||||||||||||||||||||||||||
Sh2d1atm1Cpt/Sh2d1a+ | ||||||||||||||||||||||||||||||||||
Sh2d1atm1Cpt/Y | ! | ! | ! | |||||||||||||||||||||||||||||||
Sh2d1atm1Lyin/Y | ||||||||||||||||||||||||||||||||||
Sh2d1atm1Pls/Y | ||||||||||||||||||||||||||||||||||
Tg(CD2-Sh2d1a)#Vei/0 | ||||||||||||||||||||||||||||||||||
Sh2d1atm2.1Cpt/Sh2d1atm2.1Cpt Gt(ROSA)26Sortm9(cre/ESR1)Arte/Gt(ROSA)26Sor+ (conditional) |
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Sh2d1atm2Vei/Sh2d1atm2Vei Tg(Cd4-cre)1Cwi/0 (conditional) |
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Sh2d1atm2Vei/Sh2d1atm2Vei Tg(Lck-cre)1Cwi/0 (conditional) |
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Sh2d1atm2.1Cpt/Y Gt(ROSA)26Sortm9(cre/ESR1)Arte/Gt(ROSA)26Sor+ (conditional) |
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
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last database update 05/14/2024 MGI 6.23 |
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