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Symbol
Name
ID 		Sh2d1a
SH2 domain containing 1A
MGI:1328352
Phenotype annotations related to hematopoietic system
!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
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)
Sh2d1atm2Vei/Sh2d1atm2Vei
Tg(Cd4-cre)1Cwi/0  (conditional)
Sh2d1atm2Vei/Sh2d1atm2Vei
Tg(Lck-cre)1Cwi/0  (conditional)
Sh2d1atm2.1Cpt/Y
Gt(ROSA)26Sortm9(cre/ESR1)Arte/Gt(ROSA)26Sor+  (conditional)
Contributing Projects:
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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Send questions and comments to User Support. 		last database update
04/23/2024
MGI 6.23 		The Jackson Laboratory