Symbol Name ID |
Rag1
recombination activating 1 MGI:97848 |
* | Aspects of the system are reported to show a normal phenotype. |
! | Indicates phenotype varies with strain background. |
Darker colors indicate more annotations |
Human Phenotypes | Reduced antigen-specific T cell proliferation |
Decreased lymphocyte proliferation in response to mitogen |
Decreased circulating IgA level |
Decreased circulating IgG level |
Decreased circulating total IgM |
Decreased circulating antibody level |
Panhypogammaglobulinemia |
Autoimmune hemolytic anemia |
Eosinophilia |
Abnormal B cell count |
B lymphocytopenia |
Severe B lymphocytopenia |
Abnormal T cell count |
Decreased proportion of CD3-positive T cells |
T lymphocytopenia |
Lymphopenia |
Abnormal natural killer cell count |
Recurrent upper and lower respiratory tract infections |
Conjunctivitis |
Lymphadenitis |
Lymphadenopathy |
Hypoplasia of the thymus |
Splenomegaly |
Hepatosplenomegaly |
Otitis media |
Erythroderma |
Skin rash |
Pneumonia |
Autoimmunity |
Combined immunodeficiency |
Severe combined immunodeficiency |
Recurrent opportunistic infections |
Failure to thrive secondary to recurrent infections |
Recurrent bacterial infections |
Recurrent fungal infections |
Recurrent respiratory infections |
Recurrent viral infections |
Recurrent enteroviral infections |
Meningitis |
Disease(s) Associated with RAG1 | |||||||||||||||||||||||||||||||||||||||
combined cellular and humoral immune defects with granulomas | |||||||||||||||||||||||||||||||||||||||
Omenn syndrome | |||||||||||||||||||||||||||||||||||||||
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive |
Mouse Phenotypes | immune system phenotype |
decreased susceptibility to induced colitis |
abnormal thymus epithelium morphology |
small thymus |
thymus hypoplasia |
ear inflammation |
abnormal lymphopoiesis |
abnormal B cell differentiation |
abnormal class switch recombination |
absent immature B cells |
increased immature B cell number |
abnormal immunoglobulin V(D)J recombination |
abnormal immunoglobulin heavy chain V(D)J recombination |
absent late pro-B cells |
increased pro-B cell number |
arrested B cell differentiation |
abnormal T cell differentiation |
abnormal CD8-positive, alpha-beta T cell differentiation |
abnormal T cell receptor V(D)J recombination |
abnormal T cell receptor beta chain V(D)J recombination |
abnormal double-negative T cell morphology |
increased double-negative T cell number |
abnormal double-positive T cell morphology |
decreased double-positive T cell number |
arrested T cell differentiation |
increased eosinophil cell number |
decreased neutrophil cell number |
increased granulocyte number |
decreased mature B cell number |
absent mature B cells |
decreased B cell number |
absent B cells |
increased NK cell number |
decreased CD4-positive, alpha-beta T cell number |
increased central memory CD8 positive, alpha-beta T cell number |
decreased CD8-positive, naive alpha-beta T cell number |
decreased CD8-positive, alpha-beta T cell number |
increased CD8-positive, alpha-beta T cell number |
increased alpha-beta T cell number |
decreased gamma-delta T cell number |
decreased T cell number |
absent T cells |
decreased lymphocyte cell number |
absent lymphocyte |
increased macrophage cell number |
abnormal T cell morphology |
spleen hypoplasia |
abnormal immunoglobulin level |
decreased IgG level |
decreased IgM level |
decreased immunoglobulin level |
impaired natural killer cell mediated cytotoxicity |
abnormal inguinal lymph node morphology |
abnormal lymphatic vessel morphology |
abnormal level of surface class II molecules |
autoimmune response |
decreased inflammatory response |
dermatitis |
abnormal response to infection |
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Availability | Mouse Genotype | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rag1/Rag2tm1Mnz/Rag1/Rag2tm1Mnz | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rag1coln/Rag1coln | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rag1em2Mvw/Rag1em2Mvw | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rag1em3Mvw/Rag1em3Mvw | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rag1m1Anu/Rag1m1Anu | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rag1m1Btlr/Rag1m1Btlr | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rag1m2Btlr/Rag1m2Btlr | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rag1m3Btlr/Rag1m3Btlr | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rag1m4Btlr/Rag1m4Btlr | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rag1tm1(cre)Thr/Rag1tm1(cre)Thr | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rag1tm1(GFP)Imku/Rag1tm1(GFP)Imku | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rag1tm1.1Sadu/Rag1tm1.1Sadu | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rag1tm1Fwa/Rag1tm1Fwa | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rag1tm1Jsek/Rag1tm1Jsek | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rag1tm1Mom/Rag1tm1Mom | ! | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rag1tm1Jsek/Rag1+ | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cd79atm2(cre/Esr1*)Reth/Cd79a+ Rag1tm1.1Sadu/Rag1tm1.1Sadu (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 04/16/2024 MGI 6.23 |
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