Phenotypes Associated with This Genotype

Genotype
MGI:2179821

• Allelic Composition: Il2rg^tm1Cgn/Il2rg^tm1Cgn
• Genetic Background: involves: 129 * CB20

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

immune system

decreased T cell proliferation ( J:22521 )

♀ • splenic T cells do not proliferate in response to Con A

thymus hypoplasia ( J:22521 )

♀ • 22-fold reduction in cellularity

abnormal thymocyte activation ( J:22521 )

♀ • thymocytes do not activate in response to Con A

abnormal leukocyte morphology ( J:22521 )

♀

abnormal class switch recombination ( J:22521 )

♀ • in vitro class switch using LPS and IL-4 fail to generate more IgG1-positive cells

decreased mature B cell number ( J:22521 )

♀ • 12-fold reduction in the spleen in 3-4 week old mice

♀ • further loss occurs with age

decreased plasma cell number ( J:22521 )

♀ • plasma cells in the gut are exceptionally rare

decreased pre-B cell number ( J:22521 )

♀ • 20-fold decrease in bone marrow though some cells are still present

absent NK cells ( J:22521 )

♀ • NK cells are not detected in the spleen

decreased T cell number ( J:22521 )

♀ • 3 fold reduction of mature alphabeta T cells in the spleen

♀ • reduction of T cells in lamina propia of gut is observed

abnormal alpha-beta intraepithelial T cell morphology ( J:22521 )

♀ • 12-fold reduction in number of T cells found in gut epithelium

spleen hypoplasia ( J:22521 )

♀ • 8-fold reduction in cellularity

absent spleen germinal center ( J:22521 )

♀ • no germinal centers are observed

decreased spleen white pulp amount ( J:22521 )

♀ • clusters of white pulp are diminished in number and size

decreased IgE level ( J:22521 )

♀ • no IgE detected in the sera

decreased IgM level ( J:22521 )

♀ • 3-fold reduction in sera levels

impaired natural killer cell mediated cytotoxicity ( J:22521 )

♀ • no splenic NK killing activity is observed against a NK-sensitive target cell line

absent Peyer's patches ( J:22521 )

♀ • Peyer's patchers are not observed

hematopoietic system

decreased T cell proliferation ( J:22521 )

♀ • splenic T cells do not proliferate in response to Con A

abnormal thymocyte activation ( J:22521 )

♀ • thymocytes do not activate in response to Con A

abnormal hematopoietic system morphology/development ( J:22521 )

♀

thymus hypoplasia ( J:22521 )

♀ • 22-fold reduction in cellularity

abnormal leukocyte morphology ( J:22521 )

♀

abnormal class switch recombination ( J:22521 )

♀ • in vitro class switch using LPS and IL-4 fail to generate more IgG1-positive cells

decreased mature B cell number ( J:22521 )

♀ • 12-fold reduction in the spleen in 3-4 week old mice

♀ • further loss occurs with age

decreased plasma cell number ( J:22521 )

♀ • plasma cells in the gut are exceptionally rare

decreased pre-B cell number ( J:22521 )

♀ • 20-fold decrease in bone marrow though some cells are still present

absent NK cells ( J:22521 )

♀ • NK cells are not detected in the spleen

decreased T cell number ( J:22521 )

♀ • 3 fold reduction of mature alphabeta T cells in the spleen

♀ • reduction of T cells in lamina propia of gut is observed

abnormal alpha-beta intraepithelial T cell morphology ( J:22521 )

♀ • 12-fold reduction in number of T cells found in gut epithelium

spleen hypoplasia ( J:22521 )

♀ • 8-fold reduction in cellularity

absent spleen germinal center ( J:22521 )

♀ • no germinal centers are observed

decreased spleen white pulp amount ( J:22521 )

♀ • clusters of white pulp are diminished in number and size

decreased IgE level ( J:22521 )

♀ • no IgE detected in the sera

decreased IgM level ( J:22521 )

♀ • 3-fold reduction in sera levels

impaired natural killer cell mediated cytotoxicity ( J:22521 )

♀ • no splenic NK killing activity is observed against a NK-sensitive target cell line

endocrine/exocrine glands

thymus hypoplasia ( J:22521 )

♀ • 22-fold reduction in cellularity

abnormal thymocyte activation ( J:22521 )

♀ • thymocytes do not activate in response to Con A

cellular

decreased T cell proliferation ( J:22521 )

♀ • splenic T cells do not proliferate in response to Con A

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
NOT	combined T cell and B cell immunodeficiency	DOID:628		J:22521
NOT	X-linked severe combined immunodeficiency	DOID:0060013	OMIM:300400	J:22521