Anorexia, Aplasia/Hypoplasia of the skin, Aplasia/Hypoplasia of the thymus, Ataxia, B-cell lymphoma, Bronchiectasis, Cafe-au-lait spot, Cellular immunodeficiency, Choreoathetosis, Chronic lymphatic leukemia, Cognitive impairment, Conjunctival telangiectasia, Decreased circulating antibody concentration, Decreased circulating IgA concentration, Decreased circulating IgG2 concentration, Decreased circulating IgG concentration, Decreased proportion of CD4-positive helper T cells, Defective B cell differentiation, Delayed puberty, Diabetes mellitus, Dysarthria, Dystonia, Elevated circulating alpha-fetoprotein concentration, Elevated circulating hepatic transaminase concentration, Failure to thrive, Fatigue, Female hypogonadism, Fever, Gait disturbance, Glucose intolerance, Hodgkin lymphoma, Hypopigmentation of hair, Hypoplasia of the thymus, Immunodeficiency, Leukemia, Lymphadenopathy, Lymphoma, Lymphopenia, Mucosal telangiectasiae, Multiple cafe-au-lait spots, Myoclonus, Neoplasm, Non-Hodgkin lymphoma, Nystagmus, Polycystic ovaries, Premature graying of hair, Prematurely aged appearance, Recurrent bronchitis, Recurrent respiratory infections, Reduced tendon reflexes, Seizure, Short stature, Sinusitis, Skeletal muscle atrophy, Spasticity, Splenomegaly, Strabismus, Telangiectasia of the skin, T lymphocytopenia, Tremor, Type II diabetes mellitus, Weight loss

abnormal female reproductive system morphology, abnormal gametogenesis, abnormal immune system organ morphology, abnormal lysosome morphology, abnormal microglial cell physiology, abnormal motor learning, abnormal oogenesis, abnormal Purkinje cell dendrite morphology, abnormal Purkinje cell morphology, abnormal seminiferous tubule morphology, abnormal spermatid morphology, abnormal spermatocyte morphology, abnormal T cell differentiation, abnormal testis development, abnormal tumor incidence, abnormal tumor susceptibility, abnormal uterus morphology, absent estrous cycle, absent estrus, absent oocytes, absent ovarian follicles, arrest of male meiosis, arrest of spermatogenesis, behavior/neurological phenotype, cellular phenotype, chromosomal instability, decreased activated T cell number, decreased body size, decreased CD4-positive, alpha beta T cell number, decreased CD8-positive, naive alpha-beta T cell number, decreased cell proliferation, decreased cellular sensitivity to gamma-irradiation, decreased cellular sensitivity to ionizing radiation, decreased circulating adiponectin level, decreased double-positive T cell number, decreased fibroblast proliferation, decreased IgG2a level, decreased IgG2b level, decreased IgG3 level, decreased immature B cell number, decreased interleukin-1 beta secretion, decreased locomotor activity, decreased pre-B cell number, decreased response to antigen, decreased sensitivity to induced cell death, decreased single-positive T cell number, decreased splenocyte number, decreased thymocyte number, decreased vertical activity, ectopic Purkinje cell, embryonic lethality, complete penetrance, hematopoietic system phenotype, immune system phenotype, impaired humoral immune response, impaired macrophage phagocytosis, increased adenoma incidence, increased B-1a cell number, increased B-1 B cell number, increased CD8-positive, alpha-beta memory T cell number, increased cellular sensitivity to gamma-irradiation, increased cellular sensitivity to ionizing radiation, increased central memory CD4-positive, alpha-beta T cell number, increased central memory CD8 positive, alpha-beta T cell number, increased double-negative T cell number, increased double-positive T cell number, increased effector memory CD4-positive, alpha-beta T cell number, increased food intake, increased hepatocellular carcinoma incidence, increased lymphoma incidence, increased macrophage cell number, increased mortality induced by gamma-irradiation, increased single-positive T cell number, increased T cell derived lymphoma incidence, increased tumor incidence, lethality, incomplete penetrance, nervous system phenotype, neuron degeneration, ovary degeneration, oxidative stress, premature death, Purkinje cell degeneration, seminiferous tubule degeneration, short stride length, small lymph nodes, small ovary, small spleen, small thymus, spontaneous chromosome breakage, thin cerebellar molecular layer, thymus cortex hypoplasia