Resource of Asian Primary Immunodeficiency Diseases

RAPID Original

SH2D1A

External links	Primary Information
MGI:1328352 ENSMUSG00000005696	Gene Symbol	Sh2d1a
	Affected Anatomical Systems	hematopoietic system phenotype,immune system phenotype
Allele Details
Allele ID Allele Symbol Allele Type Allele Name PubMed Id MGI:3761605 Sh2d1arpl Spontaneous regression of phenotype associated with lpr 16365433 MGI:3576262 Sh2d1atm1Cpt Targeted (knock-out) targeted mutation 1, Cox Terhorst 11323694 MGI:3575311 Sh2d1atm1Lyin Targeted (knock-out) targeted mutation 1, Luo Yin 12966553 MGI:2388241 Sh2d1atm1Pls Targeted (knock-out) targeted mutation 1, Pamela L Schwartzberg 11404475 MGI:3512182 Sh2d1atm1Vei Targeted (knock-in) targeted mutation 1, Andre Veillette 15539156 MGI:3775432 Sh2d1atm2.1Vei Targeted (knock-out) targeted mutation 2.1, Andre Veillette 18212118 MGI:3774546 Sh2d1atm2Vei Targeted (Floxed/Frt) targeted mutation 2, Andre Veillette 18212118
Phenotypic Details
Phenotypes Allelic Composition Genetic Background PubMed Id Increased Susceptibility To Infection Sh2d1atm1Pls>/Sh2d1a either: 129S6/SvEvTac or (involves: 129S6/SvEvTac * C57BL/6) 11404475 Abnormal Lymphocyte Cell Number Sh2d1atm1Pls>/Sh2d1a either: 129S6/SvEvTac or (involves: 129S6/SvEvTac * C57BL/6) 11404475 Increased Susceptibility To Viral Infection Sh2d1atm1Pls>/Sh2d1a either: 129S6/SvEvTac or (involves: 129S6/SvEvTac * C57BL/6) 11404475 Decreased IgE Level Sh2d1atm1Pls>/Sh2d1a either: 129S6/SvEvTac or (involves: 129S6/SvEvTac * C57BL/6) 11404475 Abnormal T-helper 1 Cell Morphology Sh2d1atm1Pls>/Sh2d1a either: 129S6/SvEvTac or (involves: 129S6/SvEvTac * C57BL/6) 11404475 Abnormal T-helper 2 Cell Morphology Sh2d1atm1Pls>/Sh2d1a either: 129S6/SvEvTac or (involves: 129S6/SvEvTac * C57BL/6) 11404475 Increased Susceptibility To Parasitic Infection Sh2d1atm1Pls>/Sh2d1a either: 129S6/SvEvTac or (involves: 129S6/SvEvTac * C57BL/6) 11404475 Increased T Cell Proliferation Sh2d1atm1Pls>/Sh2d1a either: 129S6/SvEvTac or (involves: 129S6/SvEvTac * C57BL/6) 11404475 Decreased Susceptibility To Parasitic Infection Sh2d1atm1Pls>/Sh2d1a involves: BALB/c 15123745 Abnormal Immune System Physiology Sh2d1atm1Lyin>/Sh2d1a involves: 129S2/SvPas * C57BL/6 12966553 Chronic Inflammation Sh2d1atm1Lyin>/Sh2d1a involves: 129S2/SvPas * C57BL/6 12966553 Decreased Immunoglobulin Level Sh2d1atm1Lyin>/Sh2d1a involves: 129S2/SvPas * C57BL/6 12966553 Decreased IgE Level Sh2d1atm1Lyin>/Sh2d1a involves: 129S2/SvPas * C57BL/6 12966553 Decreased IgG Level Sh2d1atm1Lyin>/Sh2d1a involves: 129S2/SvPas * C57BL/6 12966553 Increased CD8-positive T Cell Number Sh2d1atm1Lyin>/Sh2d1a involves: 129S2/SvPas * C57BL/6 12966553 Abnormal Humoral Immune Response Sh2d1atm1Cpt>/Sh2d1a B6.129S4-Sh2d1a 15774582 Decreased IgM Level Sh2d1atm1Cpt>/Sh2d1a B6.129S4-Sh2d1a 15774582 Increased B Cell Number Sh2d1atm1Cpt>/Sh2d1a B6.129S4-Sh2d1a 15774582 Decreased NK T Cell Number Sh2d1atm1Cpt>/Sh2d1a B6.129S4-Sh2d1a 15749842 Absent NK T Cells Sh2d1atm1Cpt>/Sh2d1a B6.129S4-Sh2d1a 15749842 Decreased Transitional Stage B Cell Number Sh2d1atm1Cpt>/Sh2d1a B6.129S4-Sh2d1a 15749842 Decreased IgG1 Level Sh2d1atm1Cpt>/Sh2d1a B6.129S4-Sh2d1a 15774582 Increased IgG2a Level Sh2d1atm1Cpt>/Sh2d1a B6.129S4-Sh2d1a 15774582 Decreased IgG Level Sh2d1atm1Cpt>/Sh2d1a C.129S4-Sh2d1a 15774582 Decreased IgM Level Sh2d1atm1Cpt>/Sh2d1a C.129S4-Sh2d1a 15774582 Decreased Spleen Germinal Center Number Sh2d1atm1Cpt>/Sh2d1a C.129S4-Sh2d1a 15774582 Increased Susceptibility To Viral Infection Sh2d1atm1Cpt>/Sh2d1a involves: 129S4/SvJae * C57BL/6 11323694 Increased T Cell Proliferation Sh2d1atm1Cpt>/Sh2d1a involves: 129S4/SvJae * C57BL/6 11323694 Abnormal Cytokine Secretion Sh2d1atm1Cpt>/Sh2d1a involves: 129S4/SvJae * C57BL/6 11323694 Decreased IgE Level Sh2d1atm1Cpt>/Sh2d1a involves: 129S4/SvJae * BALB/c 11323694 Decreased Susceptibility To Parasitic Infection Sh2d1atm1Cpt>/Sh2d1a involves: 129S4/SvJae * BALB/c 11323694 Abnormal Cytokine Secretion Sh2d1atm1Cpt>/Sh2d1a involves: 129S4/SvJae * BALB/c 11323694 Increased T Cell Proliferation Sh2d1atm1Cpt>/Sh2d1a<+ involves: 129S4/SvJae * C57BL/6 11323694 Abnormal Cytokine Secretion Sh2d1atm1Cpt>/Sh2d1a<+ involves: 129S4/SvJae * C57BL/6 11323694 Impaired NK Cell Cytolysis Sh2d1atm1Lyin>/Sh2d1a involves: 129S1/Sv * 129X1/SvJ 16127454 Decreased IgE Level Sh2d1atm2.1Vei>/Sh2d1a involves: C57BL/6 18212118 Decreased IgM Level Sh2d1atm2.1Vei>/Sh2d1a involves: C57BL/6 18212118 Decreased NK T Cell Number Sh2d1atm2.1Vei>/Sh2d1a involves: C57BL/6 18212118 Decreased Germinal Center B Cell Number Sh2d1atm2.1Vei>/Sh2d1a involves: C57BL/6 18212118 Decreased IgG1 Level Sh2d1atm2.1Vei>/Sh2d1a involves: C57BL/6 18212118 Decreased IgG2a Level Sh2d1atm2.1Vei>/Sh2d1a involves: C57BL/6 18212118 Decreased IgG2b Level Sh2d1atm2.1Vei>/Sh2d1a involves: C57BL/6 18212118 Decreased IgG3 Level Sh2d1atm2.1Vei>/Sh2d1a involves: C57BL/6 18212118 Decreased IgE Level Sh2d1atm1Pls>/Sh2d1a B6.129S6-Sh2d1a 15539156 Abnormal CD4-positive T Cell Physiology Sh2d1atm1Pls>/Sh2d1a B6.129S6-Sh2d1a 15539156 Decreased IgE Level Sh2d1atm1Vei>/Sh2d1a involves: 129S1/Sv * 129X1/SvJ * C57BL/6 15539156 Abnormal CD4-positive T Cell Physiology Sh2d1atm1Vei>/Sh2d1a involves: 129S1/Sv * 129X1/SvJ * C57BL/6 15539156 Abnormal Memory T Cell Physiology Sh2d1atm1Vei>/Sh2d1a involves: 129S1/Sv * 129X1/SvJ * C57BL/6 15539156