Phenotypes Associated with This Genotype

Genotype
MGI:2179823

• Allelic Composition: Il2rg^tm1Cgn/Y
• 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 , J:111821 )

♂ • 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)

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

abnormal gamma-delta T cell differentiation ( J:111821 )

♂ • 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

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

absent gamma-delta T cells ( J:111821 )

♂ • no gamma-delta T cells are found in peripheral lymphnoid organs or skin

absent gamma-delta intraepithelial T cell ( J:111821 )

♂

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

thymus hypoplasia ( J:22521 , J:111821 )

♂ • 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)

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

abnormal gamma-delta T cell differentiation ( J:111821 )

♂ • 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

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

absent gamma-delta T cells ( J:111821 )

♂ • no gamma-delta T cells are found in peripheral lymphnoid organs or skin

absent gamma-delta intraepithelial T cell ( J:111821 )

♂

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 , J:111821 )

♂ • 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)

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