Mouse Genome Informatics
hm
    Il2rgtm1Cgn/Il2rgtm1Cgn
involves: 129 * CB20
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
immune system
• 20-fold decrease in bone marrow though some cells are still present (J:22521)
• 12-fold reduction in the spleen in 3-4 week old mice (J:22521)
• further loss occurs with age (J:22521)
• plasma cells in the gut are exceptionally rare (J:22521)
• NK cells are not detected in the spleen (J:22521)
• 3 fold reduction of mature alphabeta T cells in the spleen (J:22521)
• reduction of T cells in lamina propia of gut is observed (J:22521)
• in vitro class switch using LPS and IL-4 fail to generate more IgG1-positive cells (J:22521)
• splenic T cells do not proliferate in response to Con A (J:22521)
• thymocytes do not activate in response to Con A (J:22521)
• 12-fold reduction in number of T cells found in gut epithelium (J:22521)
• 8-fold reduction in cellularity (J:22521)
• no germinal centers are observed (J:22521)
• clusters of white pulp are diminished in number and size (J:22521)
• 22-fold reduction in cellularity (J:22521)
• no IgE detected in the sera (J:22521)
• 3-fold reduction in sera levels (J:22521)
• no splenic NK killing activity is observed against a NK-sensitive target cell line (J:22521)
• Peyer's patchers are not observed (J:22521)

hematopoietic system
• 20-fold decrease in bone marrow though some cells are still present (J:22521)
• 12-fold reduction in the spleen in 3-4 week old mice (J:22521)
• further loss occurs with age (J:22521)
• plasma cells in the gut are exceptionally rare (J:22521)
• NK cells are not detected in the spleen (J:22521)
• 3 fold reduction of mature alphabeta T cells in the spleen (J:22521)
• reduction of T cells in lamina propia of gut is observed (J:22521)
• in vitro class switch using LPS and IL-4 fail to generate more IgG1-positive cells (J:22521)
• splenic T cells do not proliferate in response to Con A (J:22521)
• thymocytes do not activate in response to Con A (J:22521)
• 12-fold reduction in number of T cells found in gut epithelium (J:22521)
• 8-fold reduction in cellularity (J:22521)
• no germinal centers are observed (J:22521)
• clusters of white pulp are diminished in number and size (J:22521)
• 22-fold reduction in cellularity (J:22521)
• no IgE detected in the sera (J:22521)
• 3-fold reduction in sera levels (J:22521)
• no splenic NK killing activity is observed against a NK-sensitive target cell line (J:22521)

Mouse Models of Human Disease
OMIM IDRef(s)
NOT Combined Immunodeficiency, X-Linked; CIDX 312863 J:22521
NOT Severe Combined Immunodeficiency, X-Linked; SCIDX1 300400 J:22521