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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Sh2d1atm1Cpt
targeted mutation 1, Cox Terhorst
MGI:3576262
Summary 12 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Sh2d1atm1Cpt/Sh2d1atm1Cpt B6.129S4-Sh2d1atm1Cpt MGI:3576734
hm2
Sh2d1atm1Cpt/Sh2d1atm1Cpt C.129S4-Sh2d1atm1Cpt MGI:3576735
hm3
Sh2d1atm1Cpt/Sh2d1atm1Cpt involves: 129S4/SvJae MGI:4840409
hm4
Sh2d1atm1Cpt/Sh2d1atm1Cpt involves: 129S4/SvJae * BALB/c MGI:3576740
hm5
Sh2d1atm1Cpt/Sh2d1atm1Cpt involves: 129S4/SvJae * C57BL/6 MGI:3576739
ht6
Sh2d1atm1Cpt/Sh2d1a+ involves: 129S4/SvJae * C57BL/6 MGI:3576751
cx7
Sh2d1atm1Cpt/Sh2d1atm1Cpt
Tcra-Jtm1Tgi/Tcra-Jtm1Tgi
involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * BALB/c MGI:5444640
cx8
Sh2d1atm1Cpt/Y
Tcra-Jtm1Tgi/Tcra-Jtm1Tgi
involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * BALB/c MGI:5444644
cx9
Sh2d1atm1Cpt/Sh2d1atm1Cpt
Sh2d1b1/Sh2d1b2tm1.1Cpt/Sh2d1b1/Sh2d1b2tm1.1Cpt
involves: 129S4/SvJae * BALB/cJ MGI:4840407
cx10
Sh2d1atm1Cpt/Sh2d1atm1Cpt
Sh2d1b1/Sh2d1b2tm1.1Cpt/Sh2d1b1/Sh2d1b2tm1.1Cpt
involves: 129S4/SvJae * BALB/cJ MGI:4840408
ot11
Sh2d1atm1Cpt/Y involves: 129S4/SvJae * BALB/c MGI:5444643
ot12
Sh2d1atm1Cpt/Y involves: 129S4/SvJae * C57BL/6 MGI:5444642


Genotype
MGI:3576734
hm1
Allelic
Composition
Sh2d1atm1Cpt/Sh2d1atm1Cpt
Genetic
Background
B6.129S4-Sh2d1atm1Cpt
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sh2d1atm1Cpt mutation (0 available); any Sh2d1a mutation (10 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
immune system
• the number of transitional-2 B lymphocytes in the lymph nodes is decreased
• the number of CD21-Igm-B220+ and CD21-CD23-B220+ B cells is increased
• the frequency of NKT cells in the lymph node, spleen, liver and thymus is reduced
• CD1d-restricted NKT cells are absent
• IgG viral and T-dependent antigen-specific antibody responses are impaired; however, no defect in T-independent responses is seen
• in specific pathogen-free conditions basal serum levels of IgG1 are decreased
• in specific pathogen-free conditions serum IgG2a levels are increased
• after viral infection reduced primary antigen-specific IgM responses are seen
• after immunization with TNP-KLH/alum reduced serum titers of all antigen specific IgM isotypes were seen

hematopoietic system
• the number of transitional-2 B lymphocytes in the lymph nodes is decreased
• the number of CD21-Igm-B220+ and CD21-CD23-B220+ B cells is increased
• the frequency of NKT cells in the lymph node, spleen, liver and thymus is reduced
• CD1d-restricted NKT cells are absent
• in specific pathogen-free conditions basal serum levels of IgG1 are decreased
• in specific pathogen-free conditions serum IgG2a levels are increased
• after viral infection reduced primary antigen-specific IgM responses are seen
• after immunization with TNP-KLH/alum reduced serum titers of all antigen specific IgM isotypes were seen

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
X-linked lymphoproliferative syndrome 1 DOID:0060705 OMIM:308240
J:97388 , J:97690




Genotype
MGI:3576735
hm2
Allelic
Composition
Sh2d1atm1Cpt/Sh2d1atm1Cpt
Genetic
Background
C.129S4-Sh2d1atm1Cpt
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sh2d1atm1Cpt mutation (0 available); any Sh2d1a mutation (10 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
immune system
• after immunization with TNP-KLH/alum fewer than 2% of splenic follicles contain germinal centers compared to greater than 50% of wild-type follicles
• after immunization with TNP-KLH/alum reduced serum titers of all antigen specific IgG isotypes were seen, including both primary and secondary IgG responses
• IgG, IgG1, and IgG2a serum titers were also reduced following immunization with OVA and Freund's adjuvant
• after immunization with TNP-KLH/alum reduced serum titers of all antigen specific IgM isotypes were seen

hematopoietic system
• after immunization with TNP-KLH/alum fewer than 2% of splenic follicles contain germinal centers compared to greater than 50% of wild-type follicles
• after immunization with TNP-KLH/alum reduced serum titers of all antigen specific IgG isotypes were seen, including both primary and secondary IgG responses
• IgG, IgG1, and IgG2a serum titers were also reduced following immunization with OVA and Freund's adjuvant
• after immunization with TNP-KLH/alum reduced serum titers of all antigen specific IgM isotypes were seen

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
X-linked lymphoproliferative syndrome 1 DOID:0060705 OMIM:308240
J:97388




Genotype
MGI:4840409
hm3
Allelic
Composition
Sh2d1atm1Cpt/Sh2d1atm1Cpt
Genetic
Background
involves: 129S4/SvJae
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sh2d1atm1Cpt mutation (0 available); any Sh2d1a mutation (10 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
immune system
• in vivo clearance of RMAS/CD48+ tumors cells is impaired compared to in wild-type mice

hematopoietic system
• in vivo clearance of RMAS/CD48+ tumors cells is impaired compared to in wild-type mice




Genotype
MGI:3576740
hm4
Allelic
Composition
Sh2d1atm1Cpt/Sh2d1atm1Cpt
Genetic
Background
involves: 129S4/SvJae * BALB/c
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sh2d1atm1Cpt mutation (0 available); any Sh2d1a mutation (10 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
immune system
N
• NK T cells are functionally competent in mice on a background with BALB/c unlike in mice on a background with C57BL/6
• reduced in the thymus, spleen and liver
• Background Sensitivity: reduction in NK T cells in mice on a background with BALB/c is not as severe as in mice on a background with C57BL/6
• following exposure to NP-KLH with alpha-GalCer, germinal center B cells fail to exhibit an increase in numbers unlike in control mice
• following immunization with NP-KLH
• basal IgE levels and production after infection with Leishmania major or immunization with ovalbumin are reduced
• NP-specific IgG following immunization with NP-KLH
• when activated in vitro by anti-CD3 and anti-CD28 stimulation T cells express very low amounts of IL4, IL10, and IL13; however under polarizing Th2 conditions T cells produce normal amounts of IL4, IL10, and IL13
• after infection with Leishmania major draining lymph node cells produce less IL4, IL10, and IL13
• footpad lesions and parasite burdens are reduced in homozygotes following Leishmania major infection

hematopoietic system
• reduced in the thymus, spleen and liver
• Background Sensitivity: reduction in NK T cells in mice on a background with BALB/c is not as severe as in mice on a background with C57BL/6
• following exposure to NP-KLH with alpha-GalCer, germinal center B cells fail to exhibit an increase in numbers unlike in control mice
• following immunization with NP-KLH
• basal IgE levels and production after infection with Leishmania major or immunization with ovalbumin are reduced
• NP-specific IgG following immunization with NP-KLH

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
X-linked lymphoproliferative syndrome 1 DOID:0060705 OMIM:308240
J:97756




Genotype
MGI:3576739
hm5
Allelic
Composition
Sh2d1atm1Cpt/Sh2d1atm1Cpt
Genetic
Background
involves: 129S4/SvJae * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sh2d1atm1Cpt mutation (0 available); any Sh2d1a mutation (10 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• increased numbers of CD8+ and CD4+ T cells are found in the spleen and liver after viral infection compared to wild-type mice

immune system
• increased numbers of CD8+ and CD4+ T cells are found in the spleen and liver after viral infection compared to wild-type mice
• nearly absent in the thymus, spleen and liver
• Background Sensitivity: reduction in NK T cells in mice on a background with C57BL/6 is greater than in mice on a background with BALB/c
• following exposure to NP-KLH with alpha-GalCer, germinal center B cells fail to exhibit an increase in numbers unlike in control mice
• Background Sensitivity: NK T cells from mice on a background with C57BL/6 fail to exhibit a response to NP-KLH with alpha-GalCer unlike cells from mice on a background with BALB/c
• mice fail to exhibit a late primary antibody response on transfer of OT-II CD4+ T cells compared with controls
• Background Sensitivity: following exposure to NP-KLH with alpha-GalCer, mice on a background with C57BL/6 fail to exhibit an increase in anti-NP IgG unlike mice on a background with BALB/c
• IFNG secretion by splenic and hepatic CD8+ T cells is increased after viral infection compared to wild-type mice
• with anti-CD3 stimulation under neutral conditions mutant T cell produce 12-fold more INFG
• 14 days after infection with a hepatotropic strain of lymphocytic choriomeningitis virus homozygotes had all died, whereas only 30% of wild-type littermates had died

hematopoietic system
• increased numbers of CD8+ and CD4+ T cells are found in the spleen and liver after viral infection compared to wild-type mice
• nearly absent in the thymus, spleen and liver
• Background Sensitivity: reduction in NK T cells in mice on a background with C57BL/6 is greater than in mice on a background with BALB/c
• following exposure to NP-KLH with alpha-GalCer, germinal center B cells fail to exhibit an increase in numbers unlike in control mice
• Background Sensitivity: following exposure to NP-KLH with alpha-GalCer, mice on a background with C57BL/6 fail to exhibit an increase in anti-NP IgG unlike mice on a background with BALB/c
• Background Sensitivity: NK T cells from mice on a background with C57BL/6 fail to exhibit a response to NP-KLH with alpha-GalCer unlike cells from mice on a background with BALB/c

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
X-linked lymphoproliferative syndrome 1 DOID:0060705 OMIM:308240
J:97756




Genotype
MGI:3576751
ht6
Allelic
Composition
Sh2d1atm1Cpt/Sh2d1a+
Genetic
Background
involves: 129S4/SvJae * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sh2d1atm1Cpt mutation (0 available); any Sh2d1a mutation (10 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
immune system
• increased numbers of CD8+ and CD4+ T cells are found in the spleen and liver after viral infection compared to wild-type mice
• IFNG secretion by splenic and hepatic CD8+ T cells is increased after viral infection compared to wild-type mice

hematopoietic system
• increased numbers of CD8+ and CD4+ T cells are found in the spleen and liver after viral infection compared to wild-type mice

cellular
• increased numbers of CD8+ and CD4+ T cells are found in the spleen and liver after viral infection compared to wild-type mice




Genotype
MGI:5444640
cx7
Allelic
Composition
Sh2d1atm1Cpt/Sh2d1atm1Cpt
Tcra-Jtm1Tgi/Tcra-Jtm1Tgi
Genetic
Background
involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * BALB/c
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sh2d1atm1Cpt mutation (0 available); any Sh2d1a mutation (10 available)
Tcra-Jtm1Tgi mutation (0 available); any Tcra-J mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
immune system
• following immunization with NP-KLH
• of NP-specific IgG following immunization with NP-KLH that is more severe than in Sh2d1atm1Cpt homozygotes on a similar background

hematopoietic system
• following immunization with NP-KLH
• of NP-specific IgG following immunization with NP-KLH that is more severe than in Sh2d1atm1Cpt homozygotes on a similar background




Genotype
MGI:5444644
cx8
Allelic
Composition
Sh2d1atm1Cpt/Y
Tcra-Jtm1Tgi/Tcra-Jtm1Tgi
Genetic
Background
involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * BALB/c
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sh2d1atm1Cpt mutation (0 available); any Sh2d1a mutation (10 available)
Tcra-Jtm1Tgi mutation (0 available); any Tcra-J mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hematopoietic system
• following immunization with NP-KLH
• of NP-specific IgG following immunization with NP-KLH that is more severe than in Sh2d1atm1Cpt homozygotes on a similar background

immune system
• following immunization with NP-KLH
• of NP-specific IgG following immunization with NP-KLH that is more severe than in Sh2d1atm1Cpt homozygotes on a similar background




Genotype
MGI:4840407
cx9
Allelic
Composition
Sh2d1atm1Cpt/Sh2d1atm1Cpt
Sh2d1b1/Sh2d1b2tm1.1Cpt/Sh2d1b1/Sh2d1b2tm1.1Cpt
Genetic
Background
involves: 129S4/SvJae * BALB/cJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sh2d1atm1Cpt mutation (0 available); any Sh2d1a mutation (10 available)
Sh2d1b1/Sh2d1b2tm1.1Cpt mutation (0 available); any Sh2d1b1 mutation (8 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
immune system
• in vivo clearance of RMAS/CD48+ or P815/CD48+ tumors cells is impaired compared to in wild-type mice

hematopoietic system
• in vivo clearance of RMAS/CD48+ or P815/CD48+ tumors cells is impaired compared to in wild-type mice




Genotype
MGI:4840408
cx10
Allelic
Composition
Sh2d1atm1Cpt/Sh2d1atm1Cpt
Sh2d1b1/Sh2d1b2tm1.1Cpt/Sh2d1b1/Sh2d1b2tm1.1Cpt
Genetic
Background
involves: 129S4/SvJae * BALB/cJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sh2d1atm1Cpt mutation (0 available); any Sh2d1a mutation (10 available)
Sh2d1b1/Sh2d1b2tm1.1Cpt mutation (0 available); any Sh2d1b2 mutation (6 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
immune system
• in vivo clearance of RMAS/CD48+ or P815/CD48+ tumors cells is impaired compared to in wild-type mice

hematopoietic system
• in vivo clearance of RMAS/CD48+ or P815/CD48+ tumors cells is impaired compared to in wild-type mice




Genotype
MGI:5444643
ot11
Allelic
Composition
Sh2d1atm1Cpt/Y
Genetic
Background
involves: 129S4/SvJae * BALB/c
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sh2d1atm1Cpt mutation (0 available); any Sh2d1a mutation (10 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hematopoietic system
• reduced in the thymus, spleen and liver
• Background Sensitivity: reduction in NK T cells in mice on a background with BALB/c is not as severe as in mice on a background with C57BL/6
• following exposure to NP-KLH with alpha-GalCer, germinal center B cells fail to exhibit an increase in numbers unlike in control mice
• following immunization with NP-KLH
• basal IgE levels and production after infection with Leishmania major or immunization with ovalbumin are reduced
• NP-specific IgG following immunization with NP-KLH

immune system
N
• NK T cells are functionally competent in mice on a background with BALB/c unlike in mice on a background with C57BL/6
• reduced in the thymus, spleen and liver
• Background Sensitivity: reduction in NK T cells in mice on a background with BALB/c is not as severe as in mice on a background with C57BL/6
• following exposure to NP-KLH with alpha-GalCer, germinal center B cells fail to exhibit an increase in numbers unlike in control mice
• following immunization with NP-KLH
• basal IgE levels and production after infection with Leishmania major or immunization with ovalbumin are reduced
• NP-specific IgG following immunization with NP-KLH
• when activated in vitro by anti-CD3 and anti-CD28 stimulation T cells express very low amounts of IL4, IL10, and IL13; however under polarizing Th2 conditions T cells produce normal amounts of IL4, IL10, and IL13
• after infection with Leishmania major draining lymph node cells produce less IL4, IL10, and IL13
• footpad lesions and parasite burdens are reduced in homozygotes following Leishmania major infection




Genotype
MGI:5444642
ot12
Allelic
Composition
Sh2d1atm1Cpt/Y
Genetic
Background
involves: 129S4/SvJae * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sh2d1atm1Cpt mutation (0 available); any Sh2d1a mutation (10 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• increased numbers of CD8+ and CD4+ T cells are found in the spleen and liver after viral infection compared to wild-type mice

hematopoietic system
• increased numbers of CD8+ and CD4+ T cells are found in the spleen and liver after viral infection compared to wild-type mice
• nearly absent in the thymus, spleen and liver
• Background Sensitivity: reduction in NK T cells in mice on a background with C57BL/6 is greater than in mice on a background with BALB/c
• following exposure to NP-KLH with alpha-GalCer, germinal center B cells fail to exhibit an increase in numbers unlike in control mice
• Background Sensitivity: following exposure to NP-KLH with alpha-GalCer, mice on a background with C57BL/6 fail to exhibit an increase in anti-NP IgG unlike mice on a background with BALB/c
• Background Sensitivity: NK T cells from mice on a background with C57BL/6 fail to exhibit a response to NP-KLH with alpha-GalCer unlike cells from mice on a background with BALB/c

immune system
• increased numbers of CD8+ and CD4+ T cells are found in the spleen and liver after viral infection compared to wild-type mice
• nearly absent in the thymus, spleen and liver
• Background Sensitivity: reduction in NK T cells in mice on a background with C57BL/6 is greater than in mice on a background with BALB/c
• following exposure to NP-KLH with alpha-GalCer, germinal center B cells fail to exhibit an increase in numbers unlike in control mice
• Background Sensitivity: NK T cells from mice on a background with C57BL/6 fail to exhibit a response to NP-KLH with alpha-GalCer unlike cells from mice on a background with BALB/c
• mice fail to exhibit a late primary antibody response on transfer of OT-II CD4+ T cells compared with controls
• Background Sensitivity: following exposure to NP-KLH with alpha-GalCer, mice on a background with C57BL/6 fail to exhibit an increase in anti-NP IgG unlike mice on a background with BALB/c
• IFNG secretion by splenic and hepatic CD8+ T cells is increased after viral infection compared to wild-type mice
• with anti-CD3 stimulation under neutral conditions mutant T cell produce 12-fold more INFG
• 14 days after infection with a hepatotropic strain of lymphocytic choriomeningitis virus homozygotes had all died, whereas only 30% of wild-type littermates had died





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last database update
04/16/2024
MGI 6.23
The Jackson Laboratory