Symbol
Name
ID

Rag1
recombination activating 1
MGI:97848

Phenotype annotations related to hematopoietic system

!	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

Anemia

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

Thrombocytopenia

Splenomegaly

Hepatosplenomegaly

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

abnormal thymus epithelium morphology

small thymus

thymus hypoplasia

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

Availability

Mouse Genotype

Rag1/Rag2^tm1Mnz/Rag1/Rag2^tm1Mnz

Rag1^coln/Rag1^coln

Rag1^em2Mvw/Rag1^em2Mvw

Rag1^em3Mvw/Rag1^em3Mvw

Rag1^m1Anu/Rag1^m1Anu

Rag1^m1Btlr/Rag1^m1Btlr

Rag1^m2Btlr/Rag1^m2Btlr

Rag1^m3Btlr/Rag1^m3Btlr

Rag1^m4Btlr/Rag1^m4Btlr

Rag1^tm1(cre)Thr/Rag1^tm1(cre)Thr

Rag1^tm1(GFP)Imku/Rag1^tm1(GFP)Imku

Rag1^tm1.1Sadu/Rag1^tm1.1Sadu

Rag1^tm1Fwa/Rag1^tm1Fwa

Rag1^tm1Jsek/Rag1^tm1Jsek

Rag1^tm1Mom/Rag1^tm1Mom

Rag1^tm1Jsek/Rag1⁺

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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