Mouse Genome Informatics
ot
    Il2rgtm1Cgn/Y
involves: 129 * CB20
Key:
phenotype observed in females
phenotype observed in males
N normal phenotype
immune system
• 22-fold reduction in cellularity (J:22521)
• 10-fold less cellularity of thymus from fetal day E15.5 through birth (J:111821)
• 20-fold less cellularity by six days of age (J:111821)
• thymocytes do not activate in response to Con A
• in vitro class switch using LPS and IL-4 fail to generate more IgG1-positive cells
• splenic T cells do not proliferate in response to Con A
• complete absence of gamma-delta T cells in adult thymus
• few gamma-delta T cells found in fetal thymus
• TCR-gamma rearrangements are severely reduced
• 12-fold reduction in the spleen in 3-4 week old mice
• further loss occurs with age
• plasma cells in the gut are exceptionally rare
• 20-fold decrease in bone marrow though some cells are still present
• NK cells are not detected in the spleen
• 3 fold reduction of mature alphabeta T cells in the spleen
• reduction of T cells in lamina propia of gut is observed
• no gamma-delta T cells are found in peripheral lymphnoid organs or skin
• 12-fold reduction in number of T cells found in gut epithelium
• 8-fold reduction in cellularity
• no germinal centers are observed
• clusters of white pulp are diminished in number and size
• no IgE detected in the sera
• 3-fold reduction in sera levels
• no splenic NK killing activity is observed against a NK-sensitive target cell line
• Peyer's patchers are not observed

hematopoietic system
• 22-fold reduction in cellularity (J:22521)
• 10-fold less cellularity of thymus from fetal day E15.5 through birth (J:111821)
• 20-fold less cellularity by six days of age (J:111821)
• thymocytes do not activate in response to Con A
• in vitro class switch using LPS and IL-4 fail to generate more IgG1-positive cells
• splenic T cells do not proliferate in response to Con A
• complete absence of gamma-delta T cells in adult thymus
• few gamma-delta T cells found in fetal thymus
• TCR-gamma rearrangements are severely reduced
• 12-fold reduction in the spleen in 3-4 week old mice
• further loss occurs with age
• plasma cells in the gut are exceptionally rare
• 20-fold decrease in bone marrow though some cells are still present
• NK cells are not detected in the spleen
• 3 fold reduction of mature alphabeta T cells in the spleen
• reduction of T cells in lamina propia of gut is observed
• no gamma-delta T cells are found in peripheral lymphnoid organs or skin
• 12-fold reduction in number of T cells found in gut epithelium
• 8-fold reduction in cellularity
• no germinal centers are observed
• clusters of white pulp are diminished in number and size
• no IgE detected in the sera
• 3-fold reduction in sera levels
• no splenic NK killing activity is observed against a NK-sensitive target cell line

endocrine/exocrine glands
• 22-fold reduction in cellularity (J:22521)
• 10-fold less cellularity of thymus from fetal day E15.5 through birth (J:111821)
• 20-fold less cellularity by six days of age (J:111821)
• thymocytes do not activate in response to Con A

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