hm1

Il2rg^tm1Cgn/Il2rg^tm1Cgn
involves: 129 * CB20

Key:
♀	phenotype observed in females	WTSI	Wellcome Trust Sanger Institute
♂	phenotype observed in males	Euro	Europhenome
N	normal phenotype

immune system

abnormal leukocyte morphology ( J:22521 )

(J:22521)

abnormal class switch recombination ( J:22521 )

• in vitro class switch using LPS and IL-4 fail to generate more IgG1-positive cells (J:22521)

decreased pre-B cell number ( J:22521 )

• 20-fold decrease in bone marrow though some cells are still present (J:22521)

decreased T cell proliferation ( J:22521 )

• splenic T cells do not proliferate in response to Con A (J:22521)

abnormal thymocyte activation ( J:22521 )

• thymocytes do not activate in response to Con A (J:22521)

decreased mature B cell number ( J:22521 )

• 12-fold reduction in the spleen in 3-4 week old mice (J:22521)

• further loss occurs with age (J:22521)

decreased plasma cell number ( J:22521 )

• plasma cells in the gut are exceptionally rare (J:22521)

absent NK cells ( J:22521 )

• NK cells are not detected in the spleen (J:22521)

decreased T cell number ( 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)

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

• 12-fold reduction in number of T cells found in gut epithelium (J:22521)

spleen hypoplasia ( J:22521 )

• 8-fold reduction in cellularity (J:22521)

absent spleen germinal center ( J:22521 )

• no germinal centers are observed (J:22521)

decreased spleen white pulp amount ( J:22521 )

• clusters of white pulp are diminished in number and size (J:22521)

thymus hypoplasia ( J:22521 )

• 22-fold reduction in cellularity (J:22521)

absent Peyer's patches ( J:22521 )

• Peyer's patchers are not observed (J:22521)

decreased IgE level ( J:22521 )

• no IgE detected in the sera (J:22521)

decreased IgM level ( J:22521 )

• 3-fold reduction in sera levels (J:22521)

impaired natural killer cell mediated cytotoxicity ( J:22521 )

• no splenic NK killing activity is observed against a NK-sensitive target cell line (J:22521)

hematopoietic system

abnormal hematopoietic system morphology/development ( J:22521 )

(J:22521)

abnormal leukocyte morphology ( J:22521 )

(J:22521)

abnormal class switch recombination ( J:22521 )

• in vitro class switch using LPS and IL-4 fail to generate more IgG1-positive cells (J:22521)

decreased pre-B cell number ( J:22521 )

• 20-fold decrease in bone marrow though some cells are still present (J:22521)

decreased T cell proliferation ( J:22521 )

• splenic T cells do not proliferate in response to Con A (J:22521)

abnormal thymocyte activation ( J:22521 )

• thymocytes do not activate in response to Con A (J:22521)

decreased mature B cell number ( J:22521 )

• 12-fold reduction in the spleen in 3-4 week old mice (J:22521)

• further loss occurs with age (J:22521)

decreased plasma cell number ( J:22521 )

• plasma cells in the gut are exceptionally rare (J:22521)

absent NK cells ( J:22521 )

• NK cells are not detected in the spleen (J:22521)

decreased T cell number ( 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)

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

• 12-fold reduction in number of T cells found in gut epithelium (J:22521)

spleen hypoplasia ( J:22521 )

• 8-fold reduction in cellularity (J:22521)

absent spleen germinal center ( J:22521 )

• no germinal centers are observed (J:22521)

decreased spleen white pulp amount ( J:22521 )

• clusters of white pulp are diminished in number and size (J:22521)

thymus hypoplasia ( J:22521 )

• 22-fold reduction in cellularity (J:22521)

cellular

abnormal class switch recombination ( J:22521 )

• in vitro class switch using LPS and IL-4 fail to generate more IgG1-positive cells (J:22521)

decreased pre-B cell number ( J:22521 )

• 20-fold decrease in bone marrow though some cells are still present (J:22521)

decreased T cell proliferation ( J:22521 )

• splenic T cells do not proliferate in response to Con A (J:22521)

abnormal thymocyte activation ( J:22521 )

• thymocytes do not activate in response to Con A (J:22521)

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

cx2

Il2rg^tm1Cgn/Y
Rag2^tm1Fwa/Rag2^tm1Fwa
B6.129-Rag2^tm1Fwa Il2rg^tm1Cgn

Key:
♀	phenotype observed in females	WTSI	Wellcome Trust Sanger Institute
♂	phenotype observed in males	Euro	Europhenome
N	normal phenotype

immune system

absent B cells ( J:132257 )

• mice lack all B cells (J:132257)

absent NK cells ( J:132257 )

• mice lack all NK cells (J:132257)

• NK cells that are transferred into these mice are able to proliferate with a lifespan of about 10 days (J:132257)

absent T cells ( J:132257 )

• mice lack all T cells (J:132257)

hematopoietic system

absent B cells ( J:132257 )

• mice lack all B cells (J:132257)

absent NK cells ( J:132257 )

• mice lack all NK cells (J:132257)

• NK cells that are transferred into these mice are able to proliferate with a lifespan of about 10 days (J:132257)

absent T cells ( J:132257 )

• mice lack all T cells (J:132257)

cx3

Il2rg^tm1Cgn/Il2rg^tm1Cgn
Rag2^tm1Fwa/Rag2^tm1Fwa
involves: 129P2/OlaHsd * 129S/SvEv

Key:
♀	phenotype observed in females	WTSI	Wellcome Trust Sanger Institute
♂	phenotype observed in males	Euro	Europhenome
N	normal phenotype

immune system

decreased NK cell number ( J:142654 )

• Ncr(NKp46)⁺ NK1.1⁺ NK cells are essentially absent (J:142654)

• the NKp46⁺CD127⁺ NK1.1^- subset of intestinal natural killer cells is also absent (J:142654)

abnormal interleukin secretion ( J:142654 )

• there is no interleukin 22 (IL-22) secretion by colonic lamina propia cells isolated from mice infected with C. rodentium compared to controls that secrete detectable amounts of IL-22 (J:142654)

increased susceptibility to bacterial infection ( J:142654 )

• mice are extremely susceptible to C. rodentium infection, with all mice showing dramatic weight loss and succumbing to infection by day 7 (J:142654)

• controls (Rag2 knockouts, Rag2 and Il2rg double knockouts) are not susceptible to infection (J:142654)

hematopoietic system

decreased NK cell number ( J:142654 )

• Ncr(NKp46)⁺ NK1.1⁺ NK cells are essentially absent (J:142654)

• the NKp46⁺CD127⁺ NK1.1^- subset of intestinal natural killer cells is also absent (J:142654)

cx4

Il2rg^tm1Cgn/Il2rg^tm1Cgn
Kit^tm1.1Bsm/Kit^tm1.1Bsm
involves: 129P2/OlaHsd * 129S1/Sv * C57BL/6

Key:
♀	phenotype observed in females	WTSI	Wellcome Trust Sanger Institute
♂	phenotype observed in males	Euro	Europhenome
N	normal phenotype

hematopoietic system

arrested T cell differentiation ( J:90485 )

• similar to in Il2rg^tm1Cgn homozygotes, T cell development is blocked at the TN3 to TN4 stage (J:90485)

immune system

arrested T cell differentiation ( J:90485 )

• similar to in Il2rg^tm1Cgn homozygotes, T cell development is blocked at the TN3 to TN4 stage (J:90485)

cellular

arrested T cell differentiation ( J:90485 )

• similar to in Il2rg^tm1Cgn homozygotes, T cell development is blocked at the TN3 to TN4 stage (J:90485)

immune system

abnormal leukocyte morphology ( J:22521 )

(J:22521)

abnormal class switch recombination ( J:22521 )

• in vitro class switch using LPS and IL-4 fail to generate more IgG1-positive cells (J:22521)

decreased pre-B cell number ( J:22521 )

• 20-fold decrease in bone marrow though some cells are still present (J:22521)

decreased T cell proliferation ( J:22521 )

• splenic T cells do not proliferate in response to Con A (J:22521)

abnormal thymocyte activation ( J:22521 )

• thymocytes do not activate in response to Con A (J:22521)

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

• complete absence of gamma-delta T cells in adult thymus (J:111821)

• few gamma-delta T cells found in fetal thymus (J:111821)

• TCR-gamma rearrangements are severely reduced (J:111821)

decreased mature B cell number ( J:22521 )

• 12-fold reduction in the spleen in 3-4 week old mice (J:22521)

• further loss occurs with age (J:22521)

decreased plasma cell number ( J:22521 )

• plasma cells in the gut are exceptionally rare (J:22521)

absent NK cells ( J:22521 )

• NK cells are not detected in the spleen (J:22521)

decreased T cell number ( 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)

absent gamma-delta T cells ( J:111821 )

• no gamma-delta T cells are found in peripheral lymphnoid organs or skin (J:111821)

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

(J:111821)

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

• 12-fold reduction in number of T cells found in gut epithelium (J:22521)

spleen hypoplasia ( J:22521 )

• 8-fold reduction in cellularity (J:22521)

absent spleen germinal center ( J:22521 )

• no germinal centers are observed (J:22521)

decreased spleen white pulp amount ( J:22521 )

• clusters of white pulp are diminished in number and size (J:22521)

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)

absent Peyer's patches ( J:22521 )

• Peyer's patchers are not observed (J:22521)

decreased IgE level ( J:22521 )

• no IgE detected in the sera (J:22521)

decreased IgM level ( J:22521 )

• 3-fold reduction in sera levels (J:22521)

impaired natural killer cell mediated cytotoxicity ( J:22521 )

• no splenic NK killing activity is observed against a NK-sensitive target cell line (J:22521)

hematopoietic system

abnormal leukocyte morphology ( J:22521 )

(J:22521)

abnormal class switch recombination ( J:22521 )

• in vitro class switch using LPS and IL-4 fail to generate more IgG1-positive cells (J:22521)

decreased pre-B cell number ( J:22521 )

• 20-fold decrease in bone marrow though some cells are still present (J:22521)

decreased T cell proliferation ( J:22521 )

• splenic T cells do not proliferate in response to Con A (J:22521)

abnormal thymocyte activation ( J:22521 )

• thymocytes do not activate in response to Con A (J:22521)

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

• complete absence of gamma-delta T cells in adult thymus (J:111821)

• few gamma-delta T cells found in fetal thymus (J:111821)

• TCR-gamma rearrangements are severely reduced (J:111821)

decreased mature B cell number ( J:22521 )

• further loss occurs with age (J:22521)

• 12-fold reduction in the spleen in 3-4 week old mice (J:22521)

decreased plasma cell number ( J:22521 )

• plasma cells in the gut are exceptionally rare (J:22521)

absent NK cells ( J:22521 )

• NK cells are not detected in the spleen (J:22521)

decreased T cell number ( 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)

absent gamma-delta T cells ( J:111821 )

• no gamma-delta T cells are found in peripheral lymphnoid organs or skin (J:111821)

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

(J:111821)

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

• 12-fold reduction in number of T cells found in gut epithelium (J:22521)

spleen hypoplasia ( J:22521 )

• 8-fold reduction in cellularity (J:22521)

absent spleen germinal center ( J:22521 )

• no germinal centers are observed (J:22521)

decreased spleen white pulp amount ( J:22521 )

• clusters of white pulp are diminished in number and size (J:22521)

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)

cellular

abnormal class switch recombination ( J:22521 )

• in vitro class switch using LPS and IL-4 fail to generate more IgG1-positive cells (J:22521)

decreased pre-B cell number ( J:22521 )

• 20-fold decrease in bone marrow though some cells are still present (J:22521)

decreased T cell proliferation ( J:22521 )

• splenic T cells do not proliferate in response to Con A (J:22521)

abnormal thymocyte activation ( J:22521 )

• thymocytes do not activate in response to Con A (J:22521)

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

• complete absence of gamma-delta T cells in adult thymus (J:111821)

• few gamma-delta T cells found in fetal thymus (J:111821)

• TCR-gamma rearrangements are severely reduced (J:111821)

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