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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Sh2d1atm1Pls
targeted mutation 1, Pamela L Schwartzberg
MGI:2388241
Summary 12 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Sh2d1atm1Pls/Sh2d1atm1Pls B6.129S6-Sh2d1atm1Pls MGI:3809399
hm2
 		Sh2d1atm1Pls/Sh2d1atm1Pls either: 129S6/SvEvTac or (involves: 129S6/SvEvTac * C57BL/6) MGI:3036915
hm3
 		Sh2d1atm1Pls/Sh2d1atm1Pls involves: 129S6/SvEvTac MGI:4438775
hm4
 		Sh2d1atm1Pls/Sh2d1atm1Pls involves: 129S6/SvEvTac * C57BL/6 MGI:3055761
hm5
 		Sh2d1atm1Pls/Sh2d1atm1Pls involves: BALB/c MGI:3044992
cx6
 		Sh2d1atm1Pls/Sh2d1atm1Pls
Slamf6tm1Lex/Slamf6tm1Lex 		B6.129S-Slamf6tm1Lex Sh2d1atm1Pls MGI:5441738
cx7
 		Sh2d1atm1Pls/Sh2d1atm1Pls
Tg(TcraTcrb)425Cbn/? 		involves: 129S6/SvEvTac * C57BL/6 MGI:4438774
cx8
 		Sh2d1atm1Pls/Sh2d1atm1Pls
Sh2d1b1tm3Vei/Sh2d1b1tm3Vei 		involves: 129S6/SvEvTac * C57BL/6 MGI:5438039
cx9
 		Sh2d1atm1Pls/Sh2d1atm1Pls
Tg(TcraTcrb)1100Mjb/0 		involves: 129S6/SvEvTac * C57BL/6 MGI:5438970
cx10
 		Sh2d1atm1Pls/Sh2d1atm1Pls
Slamf6tm1Pls/Slamf6tm1Pls
Tg(TcraTcrb)1100Mjb/0 		involves: 129S6/SvEvTac * C57BL/6 * C57BL/6J MGI:5438969
cx11
 		Sh2d1atm1Pls/Sh2d1atm1Pls
Tg(DO11.10)10Dlo/Tg(DO11.10)10Dlo 		involves: BALB/c * C3H * C57BL/6 MGI:3044989
ot12
 		Sh2d1atm1Pls/Y involves: 129S6/SvEvTac MGI:5502765


Genotype
MGI:3809399
hm1
Allelic
Composition		 Sh2d1atm1Pls/Sh2d1atm1Pls
Genetic
Background		 B6.129S6-Sh2d1atm1Pls
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sh2d1atm1Pls mutation (4 available); any Sh2d1a mutation (11 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
immune system
decreased IgE level ( J:93886 )
• after immunization with ovalbumin, severe deficit in IgE is observed with little or no Ig E detected
abnormal NK cell physiology ( J:187430 )
• NK cells exhibit severely decreased killing of hematopoietic cells RMA-S, YAC-1 and MHC class I-deficient splenocytes in vitro compared with wild-type cells
• mice exhibit a 10-fold increase in residual RMA-S cells in the peritoneal cavity compared with wild-type mice
• when 2B4 is engaged, the activating effect is inhibited compared to on wild-type cells
• NK cells exhibit reduced conjugation with RMA-S cells compared with wild-type cells
abnormal CD4-positive, alpha-beta T cell physiology ( J:93886 )
• pronounced defect in production of IL-4 upon stimulation with anti-CD3 or anti-CD3 plus anti-CD28
decreased interferon-gamma secretion ( J:187430 )
• in response to RMA-S and YAC-1 cells, more severe than in Sh2d1atm1Vei homozygotes

hematopoietic system
decreased IgE level ( J:93886 )
• after immunization with ovalbumin, severe deficit in IgE is observed with little or no Ig E detected
abnormal NK cell physiology ( J:187430 )
• NK cells exhibit severely decreased killing of hematopoietic cells RMA-S, YAC-1 and MHC class I-deficient splenocytes in vitro compared with wild-type cells
• mice exhibit a 10-fold increase in residual RMA-S cells in the peritoneal cavity compared with wild-type mice
• when 2B4 is engaged, the activating effect is inhibited compared to on wild-type cells
• NK cells exhibit reduced conjugation with RMA-S cells compared with wild-type cells
abnormal CD4-positive, alpha-beta T cell physiology ( J:93886 )
• pronounced defect in production of IL-4 upon stimulation with anti-CD3 or anti-CD3 plus anti-CD28




Genotype
MGI:3036915
hm2
Allelic
Composition		 Sh2d1atm1Pls/Sh2d1atm1Pls
Genetic
Background		 either: 129S6/SvEvTac or (involves: 129S6/SvEvTac * C57BL/6)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sh2d1atm1Pls mutation (4 available); any Sh2d1a mutation (11 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
cellular
increased T cell proliferation ( J:70032 )
• tendency for T-cell proliferation to be increased even in the absence of infection

hematopoietic system
increased T cell proliferation ( J:70032 )
• tendency for T-cell proliferation to be increased even in the absence of infection
abnormal lymphocyte cell number ( J:70032 )
• although lymphocyte numbers were generally normal, occasional animals had increased T cell and NK cell numbers together with decreased B cell numbers in the spleen
abnormal T-helper 1 cell morphology ( J:70032 )
• biased toward the production of the Th1 cytokines Il-2 and IFN-gamma
abnormal T-helper 2 cell morphology ( J:70032 )
• biased toward decreased production of the Th2 cytokine Il-4
decreased IgE level ( J:70032 )
• although levels of IgM, IgG, and IgA were normal, IgE levels were reduced

immune system
increased T cell proliferation ( J:70032 )
• tendency for T-cell proliferation to be increased even in the absence of infection
abnormal lymphocyte cell number ( J:70032 )
• although lymphocyte numbers were generally normal, occasional animals had increased T cell and NK cell numbers together with decreased B cell numbers in the spleen
abnormal T-helper 1 cell morphology ( J:70032 )
• biased toward the production of the Th1 cytokines Il-2 and IFN-gamma
abnormal T-helper 2 cell morphology ( J:70032 )
• biased toward decreased production of the Th2 cytokine Il-4
decreased IgE level ( J:70032 )
• although levels of IgM, IgG, and IgA were normal, IgE levels were reduced
increased susceptibility to parasitic infection ( J:70032 )
• elevated T-cell response to Toxoplasma gondii infection
• lower titers of Ig isotypes directed against Toxoplasma antigens
increased susceptibility to Riboviria infection ( J:70032 )
• increased T-cell response to infection with lymphocyte choriomeningitis virus (LCMV)
• Elevated activity of CD8+ cytotoxic T lymphocytes in spleen
• CD4+ cells also increased 2-3X
• decrease in antibody secreting cells in spleen and bone marrow
• more virulent strains led to increased morbidity

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
X-linked lymphoproliferative syndrome 1 DOID:0060705 OMIM:308240
 J:70032




Genotype
MGI:4438775
hm3
Allelic
Composition		 Sh2d1atm1Pls/Sh2d1atm1Pls
Genetic
Background		 involves: 129S6/SvEvTac
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sh2d1atm1Pls mutation (4 available); any Sh2d1a mutation (11 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
immune system
decreased CD4-positive, alpha-beta T cell number ( J:157915 )
• 7-9 days after immunization , there is a clear decrease in CD4+ T cells expressing Tfh cell markers
abnormal long lived plasma cell morphology ( J:157915 )
• fewer 4-hydroxy-3-nitrophenyl acetyl(NP) specific antibody-secreting cells in the bone marrow 30 days post immunization
abnormal NK T cell morphology ( J:196692 )
• invariant NKT cells exhibit impaired microtubule-organizing center polarization compared with wild-type cells
decreased IgG level ( J:157915 )
• high-affinity 4-hydroxy-3-nitrophenyl acetyl(NP) specific antibodies are at lower titers than in wild-type mice, 30 days postimmunization
abnormal CD4-positive, alpha-beta T cell physiology ( J:157915 )
• adhesion to plastic surfaces coated with CD84 or Ly108 is impaired
abnormal cytotoxic T cell physiology ( J:187431 )
• impaired adhesion to wild-type B cells when stimulated with ovalbumin
• however, inhibition of SHP rescues adhesion
decreased interleukin-21 secretion ( J:157915 )
• from mice immunized with the T-dependent antigen 4-hydroxy-3-nitrophenyl acetyl(NP) -OVA

hematopoietic system
decreased CD4-positive, alpha-beta T cell number ( J:157915 )
• 7-9 days after immunization , there is a clear decrease in CD4+ T cells expressing Tfh cell markers
abnormal long lived plasma cell morphology ( J:157915 )
• fewer 4-hydroxy-3-nitrophenyl acetyl(NP) specific antibody-secreting cells in the bone marrow 30 days post immunization
abnormal NK T cell morphology ( J:196692 )
• invariant NKT cells exhibit impaired microtubule-organizing center polarization compared with wild-type cells
decreased IgG level ( J:157915 )
• high-affinity 4-hydroxy-3-nitrophenyl acetyl(NP) specific antibodies are at lower titers than in wild-type mice, 30 days postimmunization
abnormal CD4-positive, alpha-beta T cell physiology ( J:157915 )
• adhesion to plastic surfaces coated with CD84 or Ly108 is impaired
abnormal cytotoxic T cell physiology ( J:187431 )
• impaired adhesion to wild-type B cells when stimulated with ovalbumin
• however, inhibition of SHP rescues adhesion




Genotype
MGI:3055761
hm4
Allelic
Composition		 Sh2d1atm1Pls/Sh2d1atm1Pls
Genetic
Background		 involves: 129S6/SvEvTac * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sh2d1atm1Pls mutation (4 available); any Sh2d1a mutation (11 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
immune system
immune system phenotype ( J:92740 )
N
• natural killer cell number and function are normal




Genotype
MGI:3044992
hm5
Allelic
Composition		 Sh2d1atm1Pls/Sh2d1atm1Pls
Genetic
Background		 involves: BALB/c
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sh2d1atm1Pls mutation (4 available); any Sh2d1a mutation (11 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
immune system
decreased susceptibility to parasitic infection ( J:90484 )
• homozygous mutants on a BALB/c background develop smaller lesions following infection with L. major
• no difference in response is seen on a C57BL/6 background




Genotype
MGI:5441738
cx6
Allelic
Composition		 Sh2d1atm1Pls/Sh2d1atm1Pls
Slamf6tm1Lex/Slamf6tm1Lex
Genetic
Background		 B6.129S-Slamf6tm1Lex Sh2d1atm1Pls
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sh2d1atm1Pls mutation (4 available); any Sh2d1a mutation (11 available)
Slamf6tm1Lex mutation (2 available); any Slamf6 mutation (33 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
immune system
immune system phenotype ( J:187429 )
N
• mice exhibit normal response to LCMV infection




Genotype
MGI:4438774
cx7
Allelic
Composition		 Sh2d1atm1Pls/Sh2d1atm1Pls
Tg(TcraTcrb)425Cbn/?
Genetic
Background		 involves: 129S6/SvEvTac * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sh2d1atm1Pls mutation (4 available); any Sh2d1a mutation (11 available)
Tg(TcraTcrb)425Cbn mutation (3 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
immune system
abnormal CD4-positive, alpha-beta T cell physiology ( J:157915 )
• T cell to B cell antigen specific, dose dependent conjugate formation is maintained for 10 min but not for 30 min

hematopoietic system
abnormal CD4-positive, alpha-beta T cell physiology ( J:157915 )
• T cell to B cell antigen specific, dose dependent conjugate formation is maintained for 10 min but not for 30 min




Genotype
MGI:5438039
cx8
Allelic
Composition		 Sh2d1atm1Pls/Sh2d1atm1Pls
Sh2d1b1tm3Vei/Sh2d1b1tm3Vei
Genetic
Background		 involves: 129S6/SvEvTac * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sh2d1atm1Pls mutation (4 available); any Sh2d1a mutation (11 available)
Sh2d1b1tm3Vei mutation (0 available); any Sh2d1b1 mutation (11 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
immune system
abnormal NK cell physiology ( J:187430 )
• decreased killing of RMA-S
• reduced ability to convert 2B4 into an inhibitory receptor

hematopoietic system
abnormal NK cell physiology ( J:187430 )
• decreased killing of RMA-S
• reduced ability to convert 2B4 into an inhibitory receptor




Genotype
MGI:5438970
cx9
Allelic
Composition		 Sh2d1atm1Pls/Sh2d1atm1Pls
Tg(TcraTcrb)1100Mjb/0
Genetic
Background		 involves: 129S6/SvEvTac * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sh2d1atm1Pls mutation (4 available); any Sh2d1a mutation (11 available)
Tg(TcraTcrb)1100Mjb mutation (6 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
immune system
abnormal cytotoxic T cell physiology ( J:187431 )
• impaired adhesion to wild-type B cells when stimulated with ovalbumin
• however, T cells exhibit increased adhesion to and normal killing of B cells lacking Slamf6 (Sh2d1atm1Pls)
decreased interferon-gamma secretion ( J:187431 )
• in cytotoxic T cells stimulated with ovalbumin

hematopoietic system
abnormal cytotoxic T cell physiology ( J:187431 )
• impaired adhesion to wild-type B cells when stimulated with ovalbumin
• however, T cells exhibit increased adhesion to and normal killing of B cells lacking Slamf6 (Sh2d1atm1Pls)




Genotype
MGI:5438969
cx10
Allelic
Composition		 Sh2d1atm1Pls/Sh2d1atm1Pls
Slamf6tm1Pls/Slamf6tm1Pls
Tg(TcraTcrb)1100Mjb/0
Genetic
Background		 involves: 129S6/SvEvTac * C57BL/6 * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sh2d1atm1Pls mutation (4 available); any Sh2d1a mutation (11 available)
Slamf6tm1Pls mutation (1 available); any Slamf6 mutation (33 available)
Tg(TcraTcrb)1100Mjb mutation (6 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
immune system
immune system phenotype ( J:187431 )
N
• T cells exhibit normal adhesion to wild-type B cells and B cells lacking Slamf6 (Sh2d1atm1Pls)




Genotype
MGI:3044989
cx11
Allelic
Composition		 Sh2d1atm1Pls/Sh2d1atm1Pls
Tg(DO11.10)10Dlo/Tg(DO11.10)10Dlo
Genetic
Background		 involves: BALB/c * C3H * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sh2d1atm1Pls mutation (4 available); any Sh2d1a mutation (11 available)
Tg(DO11.10)10Dlo mutation (7 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
immune system
abnormal cytokine secretion ( J:90484 )
• CD4+ T cells produce less IL-4 following treatment with OVA peptide-pulsed antigen presenting cells




Genotype
MGI:5502765
ot12
Allelic
Composition		 Sh2d1atm1Pls/Y
Genetic
Background		 involves: 129S6/SvEvTac
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sh2d1atm1Pls mutation (4 available); any Sh2d1a mutation (11 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
immune system
decreased CD4-positive, alpha-beta T cell number ( J:157915 )
• 7-9 days after immunization , there is a clear decrease in CD4+ T cells expressing Tfh cell markers
abnormal long lived plasma cell morphology ( J:157915 )
• fewer 4-hydroxy-3-nitrophenyl acetyl(NP) specific antibody-secreting cells in the bone marrow 30 days post immunization
abnormal NK T cell morphology ( J:196692 )
• invariant NKT cells exhibit impaired microtubule-organizing center polarization compared with wild-type cells
decreased IgG level ( J:157915 )
• high-affinity 4-hydroxy-3-nitrophenyl acetyl(NP) specific antibodies are at lower titers than in wild-type mice, 30 days postimmunization
abnormal CD4-positive, alpha-beta T cell physiology ( J:157915 )
• adhesion to plastic surfaces coated with CD84 or Ly108 is impaired
abnormal cytotoxic T cell physiology ( J:187431 )
• impaired adhesion to wild-type B cells when stimulated with ovalbumin
• however, inhibition of SHP rescues adhesion
decreased interleukin-21 secretion ( J:157915 )
• from mice immunized with the T-dependent antigen 4-hydroxy-3-nitrophenyl acetyl(NP) -OVA

hematopoietic system
decreased CD4-positive, alpha-beta T cell number ( J:157915 )
• 7-9 days after immunization , there is a clear decrease in CD4+ T cells expressing Tfh cell markers
abnormal long lived plasma cell morphology ( J:157915 )
• fewer 4-hydroxy-3-nitrophenyl acetyl(NP) specific antibody-secreting cells in the bone marrow 30 days post immunization
abnormal NK T cell morphology ( J:196692 )
• invariant NKT cells exhibit impaired microtubule-organizing center polarization compared with wild-type cells
decreased IgG level ( J:157915 )
• high-affinity 4-hydroxy-3-nitrophenyl acetyl(NP) specific antibodies are at lower titers than in wild-type mice, 30 days postimmunization
abnormal CD4-positive, alpha-beta T cell physiology ( J:157915 )
• adhesion to plastic surfaces coated with CD84 or Ly108 is impaired
abnormal cytotoxic T cell physiology ( J:187431 )
• impaired adhesion to wild-type B cells when stimulated with ovalbumin
• however, inhibition of SHP rescues adhesion




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Send questions and comments to User Support. 		last database update
12/10/2024
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