| Monarch Ortholog Phenotypes
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Human (5 sources):
Global developmental delay,
Hyperactivity,
Immunodeficiency,
Lymphopenia,
Recurrent respiratory infections
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Mouse (23 sources):
abnormal T cell activation,
abnormal effector T cell morphology,
abnormal leukocyte migration,
abnormal thymocyte activation,
decreased CD4-positive, alpha beta T cell number,
decreased T cell proliferation,
decreased autoantibody level,
decreased interleukin-2 secretion,
decreased interleukin-6 secretion,
decreased memory T cell number,
decreased spleen weight,
decreased susceptibility to bacterial infection,
decreased susceptibility to systemic lupus erythematosus,
decreased thymocyte number,
decreased tumor necrosis factor secretion,
enlarged lymph nodes,
impaired macrophage phagocytosis,
increased T cell apoptosis,
increased mast cell degranulation,
increased spleen weight,
increased susceptibility to systemic lupus erythematosus,
increased thymocyte number,
small lymph nodes
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View all ortholog results at Monarch
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Gene expression phenotype annotations where the gene of interest has been
disrupted (manipulated) or is the gene assayed (assayed). Computed annotations are derived from
differential expression analysis from Xenbase processed GEO data with the criteria of a TPM >= 1,
FDR <= 0.05 and an absolute LogFC >= 2.