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Symbol
Name
ID
Ctps1
cytidine 5'-triphosphate synthase 1
MGI:1858304
Phenotype annotations related to immune system
Darker colors indicate more annotations
Human Phenotypes
Defective T cell proliferation
Reduced antigen-specific T cell proliferation
Decreased circulating IgG level
Decreased circulating IgG2 level
Partial absence of specific antibody response to tetanus vaccine
Decreased specific pneumococcal antibody level
Decreased proportion of memory B cells
Decreased CD4:CD8 ratio
Reduced proportion of mucosal-associated invariant T cells
Lymphopenia
Persistent viremia
Immunodeficiency
Recurrent viral infections
Severe viral infection
Severe varicella zoster infection
Disease(s) Associated with CTPS1
immunodeficiency 24

Mouse Phenotypes
enlarged lymph nodes
Availability Mouse Genotype
Ctps1em1(IMPC)Tcp/Ctps1+

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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last database update
04/23/2024
MGI 6.23
The Jackson Laboratory