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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Traf3ip2tm1.1Lix
targeted mutation 1.1, Xiaoxia Li
MGI:3510784
Summary 7 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Traf3ip2tm1.1Lix/Traf3ip2tm1.1Lix B6.129-Traf3ip2tm1.1Lix MGI:5440213
hm2
Traf3ip2tm1.1Lix/Traf3ip2tm1.1Lix C.129-Traf3ip2tm1.1Lix MGI:5439184
hm3
Traf3ip2tm1.1Lix/Traf3ip2tm1.1Lix involves: 129/Sv * BALB/c MGI:3511165
cn4
Traf3ip2tm1Lix/Traf3ip2tm1.1Lix
Tg(CD19-cre/ERT2)1Cgn/0
involves: 129/Sv * BALB/c MGI:3511174
cx5
Tcrbtm1Mom/Tcrbtm1Mom
Tcrdtm1Mom/Tcrdtm1Mom
Traf3ip2tm1.1Lix/Traf3ip2tm1.1Lix
B6.129-Tcrbtm1Mom Traf3ip2tm1.1Lix Tcrdtm1Mom MGI:5440219
cx6
Cd40tm1Kik/Cd40tm1Kik
Traf3ip2tm1.1Lix/Traf3ip2tm1.1Lix
involves: 129 * 129P2/OlaHsd * BALB/c MGI:3511170
cx7
Traf3ip2tm1.1Lix/Traf3ip2tm1.1Lix
Tnfsf13btm1Msc/Tnfsf13btm1Msc
involves: 129 * 129S2/SvPas * BALB/c MGI:3511169


Genotype
MGI:5440213
hm1
Allelic
Composition
Traf3ip2tm1.1Lix/Traf3ip2tm1.1Lix
Genetic
Background
B6.129-Traf3ip2tm1.1Lix
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Traf3ip2tm1.1Lix mutation (0 available); any Traf3ip2 mutation (19 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
immune system
N
• Background Sensitivity: while mutants on the C57BL/6 background develop lupus-like disease, they fail to develop Sjogrens syndrome-like disease as seen in the BALB/c background, showing no signs of enlarged submaxillary glands or elevated serum anti-SSB/La IgG autoantibodies (J:187766)
• Background Sensitivity: while mutants on the C57BL/6 background develop lupus-like disease, they fail to develop Sjogrens syndrome-like disease as seen in the BALB/c background, showing no signs of enlarged submaxillary glands or elevated serum anti-SSB/La IgG autoantibodies (J:187766)
• mutants exhibit a skewing in the repertoire from T1 to T2/T3 B cells resulting in ratios of T2:T1 and T3:T1 B cells that are increased compared to wild-type mice (J:187766)
• mutants exhibit a skewing in the repertoire from T1 to T2/T3 B cells resulting in ratios of T2:T1 and T3:T1 B cells that are increased compared to wild-type mice (J:187766)
• number of B cells in the spleen shows a trend toward a statistical increase compared to controls (J:187766)
• however, number of T cells in the spleen is similar to wild-type (J:187766)
• number of B cells in the spleen shows a trend toward a statistical increase compared to controls (J:187766)
• however, number of T cells in the spleen is similar to wild-type (J:187766)
• 16-18 week old mutants exhibit significantly increased numbers of total immature AA4.1+B220+ B cells (J:187766)
• 16-18 week old mutants exhibit significantly increased numbers of total immature AA4.1+B220+ B cells (J:187766)
• mutants exhibit elevated levels of marginal zone B cells (J:187766)
• however, no increase in the number of follicular mature B cells is seen (J:187766)
• mutants exhibit elevated levels of marginal zone B cells (J:187766)
• however, no increase in the number of follicular mature B cells is seen (J:187766)
• in 32-40 week old mutants (J:187766)
• in 32-40 week old mutants (J:187766)
• in 32-40 week old mutants (J:187766)
• in 32-40 week old mutants (J:187766)
• in 32-40 week old mutants (J:187766)
• in 32-40 week old mutants (J:187766)
• 28-32 week old mutants exhibit hypergammaglobulinemia (J:187766)
• however levels of IgM are normal (J:187766)
• 28-32 week old mutants exhibit hypergammaglobulinemia (J:187766)
• however levels of IgM are normal (J:187766)
• increase in cervical lymph node weight and cellularity in 32-40 week old mutants (J:187766)
• increase in cervical lymph node weight and cellularity in 32-40 week old mutants (J:187766)
• increase in cervical lymph node weight and cellularity in 32-40 week old mutants (J:187766)
• increase in cervical lymph node weight and cellularity in 32-40 week old mutants (J:187766)
• 28-32 week old mutants exhibit elevated levels of serum anti-nuclear autoantibodies (anti-chromatin IgG, anti-histone IgG, and anti-dsDNA IgG) (J:187766)
• 28-32 week old mutants exhibit elevated levels of serum anti-nuclear autoantibodies (anti-chromatin IgG, anti-histone IgG, and anti-dsDNA IgG) (J:187766)

hematopoietic system
• mutants exhibit a skewing in the repertoire from T1 to T2/T3 B cells resulting in ratios of T2:T1 and T3:T1 B cells that are increased compared to wild-type mice (J:187766)
• mutants exhibit a skewing in the repertoire from T1 to T2/T3 B cells resulting in ratios of T2:T1 and T3:T1 B cells that are increased compared to wild-type mice (J:187766)
• number of B cells in the spleen shows a trend toward a statistical increase compared to controls (J:187766)
• however, number of T cells in the spleen is similar to wild-type (J:187766)
• number of B cells in the spleen shows a trend toward a statistical increase compared to controls (J:187766)
• however, number of T cells in the spleen is similar to wild-type (J:187766)
• 16-18 week old mutants exhibit significantly increased numbers of total immature AA4.1+B220+ B cells (J:187766)
• 16-18 week old mutants exhibit significantly increased numbers of total immature AA4.1+B220+ B cells (J:187766)
• mutants exhibit elevated levels of marginal zone B cells (J:187766)
• however, no increase in the number of follicular mature B cells is seen (J:187766)
• mutants exhibit elevated levels of marginal zone B cells (J:187766)
• however, no increase in the number of follicular mature B cells is seen (J:187766)
• in 32-40 week old mutants (J:187766)
• in 32-40 week old mutants (J:187766)
• in 32-40 week old mutants (J:187766)
• in 32-40 week old mutants (J:187766)
• in 32-40 week old mutants (J:187766)
• in 32-40 week old mutants (J:187766)
• 28-32 week old mutants exhibit hypergammaglobulinemia (J:187766)
• however levels of IgM are normal (J:187766)
• 28-32 week old mutants exhibit hypergammaglobulinemia (J:187766)
• however levels of IgM are normal (J:187766)

renal/urinary system
• mutants exhibit elevated IgG deposition within the kidney glomeruli (J:187766)
• however, renal failure is not seen in mutants up to 12 months of age (J:187766)
• mutants exhibit elevated IgG deposition within the kidney glomeruli (J:187766)
• however, renal failure is not seen in mutants up to 12 months of age (J:187766)
• kidneys show occasional obstruction of the capillary lumina (J:187766)
• kidneys show occasional obstruction of the capillary lumina (J:187766)
• kidneys show moderate hypercellularity of the glomerular mesangium and occasional obstruction of the capillary lumina, however no signs of mononuclear cell infiltrates or signs of tubulointerstitial disease (J:187766)
• kidneys show moderate hypercellularity of the glomerular mesangium and occasional obstruction of the capillary lumina, however no signs of mononuclear cell infiltrates or signs of tubulointerstitial disease (J:187766)

cardiovascular system
• kidneys show occasional obstruction of the capillary lumina (J:187766)
• kidneys show occasional obstruction of the capillary lumina (J:187766)

Mouse Models of Human Disease
OMIM ID Ref(s)
Systemic Lupus Erythematosus; SLE 152700 J:187766




Genotype
MGI:5439184
hm2
Allelic
Composition
Traf3ip2tm1.1Lix/Traf3ip2tm1.1Lix
Genetic
Background
C.129-Traf3ip2tm1.1Lix
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Traf3ip2tm1.1Lix mutation (0 available); any Traf3ip2 mutation (19 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mutants begin to die around 4 months of age and by 12 months of age, about 83% mutants are dead (J:138560)
• mutants begin to die around 4 months of age and by 12 months of age, about 83% mutants are dead (J:138560)

immune system
• lymph nodes proximal to the submaxillary glands are greatly enlarged (J:138560)
• lymph nodes proximal to the submaxillary glands are greatly enlarged (J:138560)
• mutants, but not wild-type mice, develop anti-SSA/Ro and anti-SSB/La autoantibodies in response to recombinant SSA/Ro and SSB/La antigens (J:138560)
• mutants, but not wild-type mice, develop anti-SSA/Ro and anti-SSB/La autoantibodies in response to recombinant SSA/Ro and SSB/La antigens (J:138560)
• lymphocyte infiltration in lacrimal, parotid and submaxillary glands; most infiltrates are in the perivascular or periductal areas of the glands (J:138560)
• lymphocyte infiltration in lacrimal, parotid and submaxillary glands; most infiltrates are in the perivascular or periductal areas of the glands (J:138560)
• lymphocyte infiltration in parotid glands (J:138560)
• lymphocyte infiltration in parotid glands (J:138560)
• lymphocyte infiltration in submandibular glands (J:138560)
• lymphocyte infiltration in submandibular glands (J:138560)
• lymphocyte infiltration in lacrimal glands (J:138560)
• lacrimal glands are infiltrated by B220+ B cells and T cells (J:138560)
• lymphocyte infiltration in lacrimal glands (J:138560)
• lacrimal glands are infiltrated by B220+ B cells and T cells (J:138560)
• some mutants develop skin lesions around the eyes due to excessive scratching of affected eyes (J:138560)
• both males and females exhibit difficulties in maintaining fully opened eyelids beginning around 3 weeks of age due to inflammation (J:138560)
• some mutants develop skin lesions around the eyes due to excessive scratching of affected eyes (J:138560)
• both males and females exhibit difficulties in maintaining fully opened eyelids beginning around 3 weeks of age due to inflammation (J:138560)
• mutants at 8-12 months of age exhibit lymphocyte infiltration in the kidney, including the glomeruli (J:138560)
• mutants at 8-12 months of age exhibit lymphocyte infiltration in the kidney, including the glomeruli (J:138560)
• presence of anti-DNA autoantibodies and IgG complex in glomeruli, indicating development of glomerulonephritis (J:138560)
• presence of anti-DNA autoantibodies and IgG complex in glomeruli, indicating development of glomerulonephritis (J:138560)

digestive/alimentary system
• mutants exhibit reduced flow rate of saliva production (J:138560)
• mutants exhibit reduced flow rate of saliva production (J:138560)
• enlarged submaxillary glands (J:138560)
• enlarged submaxillary glands (J:138560)
• lymphocyte infiltration in parotid glands (J:138560)
• lymphocyte infiltration in parotid glands (J:138560)
• lymphocyte infiltration in submandibular glands (J:138560)
• lymphocyte infiltration in submandibular glands (J:138560)

renal/urinary system
• mutants at 8-12 months of age exhibit lymphocyte infiltration in the kidney, including the glomeruli (J:138560)
• mutants at 8-12 months of age exhibit lymphocyte infiltration in the kidney, including the glomeruli (J:138560)
• presence of anti-DNA autoantibodies and IgG complex in glomeruli, indicating development of glomerulonephritis (J:138560)
• presence of anti-DNA autoantibodies and IgG complex in glomeruli, indicating development of glomerulonephritis (J:138560)

craniofacial
• mouth inflammation (J:138560)
• mouth inflammation (J:138560)
• mutants exhibit reduced flow rate of saliva production (J:138560)
• mutants exhibit reduced flow rate of saliva production (J:138560)

endocrine/exocrine glands
• mutants exhibit reduced flow rate of saliva production (J:138560)
• mutants exhibit reduced flow rate of saliva production (J:138560)
• lymphocyte infiltration in parotid glands (J:138560)
• lymphocyte infiltration in parotid glands (J:138560)
• lymphocyte infiltration in submandibular glands (J:138560)
• lymphocyte infiltration in submandibular glands (J:138560)
• exocrine glands are infiltrated by large number of B and T cells (J:138560)
• exocrine glands are infiltrated by large number of B and T cells (J:138560)
• enlarged submaxillary glands (J:138560)
• enlarged submaxillary glands (J:138560)
• lymphocyte infiltration in lacrimal glands (J:138560)
• lacrimal glands are infiltrated by B220+ B cells and T cells (J:138560)
• lymphocyte infiltration in lacrimal glands (J:138560)
• lacrimal glands are infiltrated by B220+ B cells and T cells (J:138560)

hematopoietic system

vision/eye
• lymphocyte infiltration in lacrimal glands (J:138560)
• lacrimal glands are infiltrated by B220+ B cells and T cells (J:138560)
• lymphocyte infiltration in lacrimal glands (J:138560)
• lacrimal glands are infiltrated by B220+ B cells and T cells (J:138560)
• some mutants develop skin lesions around the eyes due to excessive scratching of affected eyes (J:138560)
• both males and females exhibit difficulties in maintaining fully opened eyelids beginning around 3 weeks of age due to inflammation (J:138560)
• some mutants develop skin lesions around the eyes due to excessive scratching of affected eyes (J:138560)
• both males and females exhibit difficulties in maintaining fully opened eyelids beginning around 3 weeks of age due to inflammation (J:138560)

homeostasis/metabolism
• mutants exhibit reduced flow rate of saliva production (J:138560)
• mutants exhibit reduced flow rate of saliva production (J:138560)

growth/size/body
• mouth inflammation (J:138560)
• mouth inflammation (J:138560)
• mutants exhibit reduced flow rate of saliva production (J:138560)
• mutants exhibit reduced flow rate of saliva production (J:138560)

Mouse Models of Human Disease
OMIM ID Ref(s)
Sjogren Syndrome 270150 J:138560




Genotype
MGI:3511165
hm3
Allelic
Composition
Traf3ip2tm1.1Lix/Traf3ip2tm1.1Lix
Genetic
Background
involves: 129/Sv * BALB/c
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Traf3ip2tm1.1Lix mutation (0 available); any Traf3ip2 mutation (19 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hematopoietic system
• the number of dendritic cells is increased in the spleen (J:93923)
• the number of dendritic cells is increased in the spleen (J:93923)
• the total splenic B cell population is increased however the proportions of different B cell stages are the same as in wild-type littermates (J:93923)
• the total splenic B cell population is increased however the proportions of different B cell stages are the same as in wild-type littermates (J:93923)
• the density of B cell zones is increased (J:93923)
• the density of B cell zones is increased (J:93923)
• IgG subclasses except for IgG3 are increased (J:93923)
• both T cell dependent and independent antigens elicit increased antigen-specific responses (J:93923)
• IgG subclasses except for IgG3 are increased (J:93923)
• both T cell dependent and independent antigens elicit increased antigen-specific responses (J:93923)

immune system
• the number of dendritic cells is increased in the spleen (J:93923)
• the number of dendritic cells is increased in the spleen (J:93923)
• the total splenic B cell population is increased however the proportions of different B cell stages are the same as in wild-type littermates (J:93923)
• the total splenic B cell population is increased however the proportions of different B cell stages are the same as in wild-type littermates (J:93923)
• the density of B cell zones is increased (J:93923)
• the density of B cell zones is increased (J:93923)
• at 3 weeks of age the lymph nodes are enlarged from lymphoid hyperplasia, increased germinal centers, and accumulation of plasma cells (J:93923)
• at 3 weeks of age the lymph nodes are enlarged from lymphoid hyperplasia, increased germinal centers, and accumulation of plasma cells (J:93923)
• IgG subclasses except for IgG3 are increased (J:93923)
• both T cell dependent and independent antigens elicit increased antigen-specific responses (J:93923)
• IgG subclasses except for IgG3 are increased (J:93923)
• both T cell dependent and independent antigens elicit increased antigen-specific responses (J:93923)
• anti-dsDNA IgG antibodies are detected (J:93923)
• anti-dsDNA IgG antibodies are detected (J:93923)
• anti-histone IgG antibodies are detected (J:93923)
• anti-histone IgG antibodies are detected (J:93923)
• anti-ssDNA IgG antibodies are detected (J:93923)
• anti-ssDNA IgG antibodies are detected (J:93923)
• inflammation is seen in multiple tissues including the skin (J:93923)
• inflammation is seen in multiple tissues including the skin (J:93923)
• upper respiratory airway inflammation is seen (J:93923)
• upper respiratory airway inflammation is seen (J:93923)

respiratory system
• upper respiratory airway inflammation is seen (J:93923)
• upper respiratory airway inflammation is seen (J:93923)




Genotype
MGI:3511174
cn4
Allelic
Composition
Traf3ip2tm1Lix/Traf3ip2tm1.1Lix
Tg(CD19-cre/ERT2)1Cgn/0
Genetic
Background
involves: 129/Sv * BALB/c
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tg(CD19-cre/ERT2)1Cgn mutation (0 available)
Traf3ip2tm1.1Lix mutation (0 available); any Traf3ip2 mutation (19 available)
Traf3ip2tm1Lix mutation (0 available); any Traf3ip2 mutation (19 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hematopoietic system
• the number of dendritic cells is increased in the spleen, this is less severe than in Act1 null mice (J:93923)
• the number of dendritic cells is increased in the spleen, this is less severe than in Act1 null mice (J:93923)
• the total splenic B cell population is increased however the proportions of different B cell stages are the same as in wild-type littermates (J:93923)
• this is less severe than in Act1 null mice (J:93923)
• the total splenic B cell population is increased however the proportions of different B cell stages are the same as in wild-type littermates (J:93923)
• this is less severe than in Act1 null mice (J:93923)
• this is less severe than in Act1 null mice (J:93923)
• this is less severe than in Act1 null mice (J:93923)
• this is less severe than in Act1 null mice (J:93923)
• this is less severe than in Act1 null mice (J:93923)

immune system
• the number of dendritic cells is increased in the spleen, this is less severe than in Act1 null mice (J:93923)
• the number of dendritic cells is increased in the spleen, this is less severe than in Act1 null mice (J:93923)
• the total splenic B cell population is increased however the proportions of different B cell stages are the same as in wild-type littermates (J:93923)
• this is less severe than in Act1 null mice (J:93923)
• the total splenic B cell population is increased however the proportions of different B cell stages are the same as in wild-type littermates (J:93923)
• this is less severe than in Act1 null mice (J:93923)
• this is less severe than in Act1 null mice (J:93923)
• this is less severe than in Act1 null mice (J:93923)
• this is less severe than in Act1 null mice (J:93923)
• this is less severe than in Act1 null mice (J:93923)
• this is less severe than in Act1 null mice (J:93923)
• this is less severe than in Act1 null mice (J:93923)




Genotype
MGI:5440219
cx5
Allelic
Composition
Tcrbtm1Mom/Tcrbtm1Mom
Tcrdtm1Mom/Tcrdtm1Mom
Traf3ip2tm1.1Lix/Traf3ip2tm1.1Lix
Genetic
Background
B6.129-Tcrbtm1Mom Traf3ip2tm1.1Lix Tcrdtm1Mom
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tcrbtm1Mom mutation (12 available); any Tcrb mutation (77 available)
Tcrdtm1Mom mutation (13 available); any Tcrd mutation (13 available)
Traf3ip2tm1.1Lix mutation (0 available); any Traf3ip2 mutation (19 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
immune system
N
• triple mutants exhibit reduced lupus-like phenotypes compared to Traf3ip2 single homozygotes, with normal spleen weight and cellularity, normal B cell numbers (B cell numbers however are decreased compared to Tcrb and Tcrd double homozygous mutants), normal cervical lymph node weight and cellularity, significantly less total IgG antibodies and anti-nuclear antigen specific IgG autoantibodies, and no IgG deposition in the kidney glomeruli (J:187766)
• triple mutants exhibit reduced lupus-like phenotypes compared to Traf3ip2 single homozygotes, with normal spleen weight and cellularity, normal B cell numbers (B cell numbers however are decreased compared to Tcrb and Tcrd double homozygous mutants), normal cervical lymph node weight and cellularity, significantly less total IgG antibodies and anti-nuclear antigen specific IgG autoantibodies, and no IgG deposition in the kidney glomeruli (J:187766)
• 16-18 week old mutants exhibit a trend toward an increase in numbers of immature B cells (J:187766)
• 16-18 week old mutants exhibit a trend toward an increase in numbers of immature B cells (J:187766)
• ratios of T2:T1 and T3:T1 B cells are increased compared to wild-type mice (J:187766)
• ratios of T2:T1 and T3:T1 B cells are increased compared to wild-type mice (J:187766)
• mutants exhibit increased levels of marginal zone B cells compared to wild-type mice, however levels are similar to that seen in Traf3ip2 single homozygotes or to Tcrb and Tcrd double homozygous mutants, indicating no further increase in levels (J:187766)
• mutants exhibit increased levels of marginal zone B cells compared to wild-type mice, however levels are similar to that seen in Traf3ip2 single homozygotes or to Tcrb and Tcrd double homozygous mutants, indicating no further increase in levels (J:187766)
• decrease in the number of T cells in the spleen compared to wild-type mice and Traf3ip2 single homozygotes (J:187766)
• decrease in the number of T cells in the spleen compared to wild-type mice and Traf3ip2 single homozygotes (J:187766)
• mutants develop significantly less total IgG antibodies (IgG, IgG1, IgG2c) and anti-nuclear antigen specific IgG autoantibodies than Traf3ip2 single homozygotes (J:187766)
• the IgG deposition within the kidney glomeruli that is seen in Traf3ip2 single homozygotes is not seen in triple mutants (J:187766)
• mutants develop significantly less total IgG antibodies (IgG, IgG1, IgG2c) and anti-nuclear antigen specific IgG autoantibodies than Traf3ip2 single homozygotes (J:187766)
• the IgG deposition within the kidney glomeruli that is seen in Traf3ip2 single homozygotes is not seen in triple mutants (J:187766)
• mutants exhibit elevated levels of IgM deposition within kidney glomeruli (J:187766)
• serum levels of anti-chromatin IgM, anti-histone IgM, and anti-dsDNA Igm are elevated in triple mutants compared to Traf3ip2 single homozygotes (J:187766)
• mutants exhibit elevated levels of IgM deposition within kidney glomeruli (J:187766)
• serum levels of anti-chromatin IgM, anti-histone IgM, and anti-dsDNA Igm are elevated in triple mutants compared to Traf3ip2 single homozygotes (J:187766)
• serum levels of anti-chromatin IgM are elevated in triple mutants compared to Traf3ip2 single homozygotes (J:187766)
• serum levels of anti-chromatin IgM are elevated in triple mutants compared to Traf3ip2 single homozygotes (J:187766)
• serum levels anti-dsDNA IgM are elevated in triple mutants compared to Traf3ip2 single homozygotes (J:187766)
• serum levels anti-dsDNA IgM are elevated in triple mutants compared to Traf3ip2 single homozygotes (J:187766)
• serum levels of anti-histone IgM are elevated in triple mutants compared to Traf3ip2 single homozygotes (J:187766)
• serum levels of anti-histone IgM are elevated in triple mutants compared to Traf3ip2 single homozygotes (J:187766)

hematopoietic system
• 16-18 week old mutants exhibit a trend toward an increase in numbers of immature B cells (J:187766)
• 16-18 week old mutants exhibit a trend toward an increase in numbers of immature B cells (J:187766)
• ratios of T2:T1 and T3:T1 B cells are increased compared to wild-type mice (J:187766)
• ratios of T2:T1 and T3:T1 B cells are increased compared to wild-type mice (J:187766)
• mutants exhibit increased levels of marginal zone B cells compared to wild-type mice, however levels are similar to that seen in Traf3ip2 single homozygotes or to Tcrb and Tcrd double homozygous mutants, indicating no further increase in levels (J:187766)
• mutants exhibit increased levels of marginal zone B cells compared to wild-type mice, however levels are similar to that seen in Traf3ip2 single homozygotes or to Tcrb and Tcrd double homozygous mutants, indicating no further increase in levels (J:187766)
• decrease in the number of T cells in the spleen compared to wild-type mice and Traf3ip2 single homozygotes (J:187766)
• decrease in the number of T cells in the spleen compared to wild-type mice and Traf3ip2 single homozygotes (J:187766)
• mutants develop significantly less total IgG antibodies (IgG, IgG1, IgG2c) and anti-nuclear antigen specific IgG autoantibodies than Traf3ip2 single homozygotes (J:187766)
• the IgG deposition within the kidney glomeruli that is seen in Traf3ip2 single homozygotes is not seen in triple mutants (J:187766)
• mutants develop significantly less total IgG antibodies (IgG, IgG1, IgG2c) and anti-nuclear antigen specific IgG autoantibodies than Traf3ip2 single homozygotes (J:187766)
• the IgG deposition within the kidney glomeruli that is seen in Traf3ip2 single homozygotes is not seen in triple mutants (J:187766)
• mutants exhibit elevated levels of IgM deposition within kidney glomeruli (J:187766)
• serum levels of anti-chromatin IgM, anti-histone IgM, and anti-dsDNA Igm are elevated in triple mutants compared to Traf3ip2 single homozygotes (J:187766)
• mutants exhibit elevated levels of IgM deposition within kidney glomeruli (J:187766)
• serum levels of anti-chromatin IgM, anti-histone IgM, and anti-dsDNA Igm are elevated in triple mutants compared to Traf3ip2 single homozygotes (J:187766)

cardiovascular system
• kidneys show occasional obstruction of the capillary lumina (J:187766)
• kidneys show occasional obstruction of the capillary lumina (J:187766)

renal/urinary system
• mutants exhibit elevated levels of IgM deposition within kidney glomeruli (J:187766)
• mutants exhibit elevated levels of IgM deposition within kidney glomeruli (J:187766)
• kidneys show occasional obstruction of the capillary lumina (J:187766)
• kidneys show occasional obstruction of the capillary lumina (J:187766)
• kidneys show moderate hypercellularity of the glomerular mesangium and occasional obstruction of the capillary lumina, however no signs of mononuclear cell infiltrates or signs of tubulointerstitial disease (J:187766)
• kidneys show moderate hypercellularity of the glomerular mesangium and occasional obstruction of the capillary lumina, however no signs of mononuclear cell infiltrates or signs of tubulointerstitial disease (J:187766)




Genotype
MGI:3511170
cx6
Allelic
Composition
Cd40tm1Kik/Cd40tm1Kik
Traf3ip2tm1.1Lix/Traf3ip2tm1.1Lix
Genetic
Background
involves: 129 * 129P2/OlaHsd * BALB/c
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cd40tm1Kik mutation (10 available); any Cd40 mutation (14 available)
Traf3ip2tm1.1Lix mutation (0 available); any Traf3ip2 mutation (19 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hematopoietic system
• double mutants exhibit an increase in peripheral B cell populations compared to Cd40 single homozygotes (J:138560)
• double mutants exhibit an increase in peripheral B cell populations compared to Cd40 single homozygotes (J:138560)
• double mutants exhibit an increase in peripheral B cell populations compared to Cd40 single homozygotes (J:138560)
• double mutants exhibit an increase in peripheral B cell populations compared to Cd40 single homozygotes (J:138560)
• double mutants exhibit an increase in peripheral B cell populations compared to Cd40 single homozygotes (J:138560)
• double mutants exhibit an increase in peripheral B cell populations compared to Cd40 single homozygotes (J:138560)
• enlargement of the spleen is reduced compared to Traf3ip2 single homozygotes (J:93923)
• immunoglobulin levels are normal unlike in Traf3ip2 single homozygotes (J:93923)
• enlargement of the spleen is reduced compared to Traf3ip2 single homozygotes (J:93923)
• immunoglobulin levels are normal unlike in Traf3ip2 single homozygotes (J:93923)
• Tnfsf13b (BAFF) stimulation results in enhanced B cell survival compared to single Cd40 mutants (J:138560)
• Tnfsf13b (BAFF) stimulation results in enhanced B cell survival compared to single Cd40 mutants (J:138560)

immune system
N
• double mutants do not exhibit production of anti-SSA/Ro and anti-SSB/La autoantibodies in response to recombinant SSA/Ro and SSB/La antigens, as seen in Traf3ip2 single homozygotes (J:138560)
• double mutants do not exhibit production of anti-SSA/Ro and anti-SSB/La autoantibodies in response to recombinant SSA/Ro and SSB/La antigens, as seen in Traf3ip2 single homozygotes (J:138560)
• double mutants exhibit an increase in peripheral B cell populations compared to Cd40 single homozygotes (J:138560)
• double mutants exhibit an increase in peripheral B cell populations compared to Cd40 single homozygotes (J:138560)
• double mutants exhibit an increase in peripheral B cell populations compared to Cd40 single homozygotes (J:138560)
• double mutants exhibit an increase in peripheral B cell populations compared to Cd40 single homozygotes (J:138560)
• double mutants exhibit an increase in peripheral B cell populations compared to Cd40 single homozygotes (J:138560)
• double mutants exhibit an increase in peripheral B cell populations compared to Cd40 single homozygotes (J:138560)
• enlargement of the spleen is reduced compared to Traf3ip2 single homozygotes (J:93923)
• immunoglobulin levels are normal unlike in Traf3ip2 single homozygotes (J:93923)
• enlargement of the spleen is reduced compared to Traf3ip2 single homozygotes (J:93923)
• immunoglobulin levels are normal unlike in Traf3ip2 single homozygotes (J:93923)
• Tnfsf13b (BAFF) stimulation results in enhanced B cell survival compared to single Cd40 mutants (J:138560)
• Tnfsf13b (BAFF) stimulation results in enhanced B cell survival compared to single Cd40 mutants (J:138560)
• enlargement of the lymph nodes is reduced compared to Traf3ip2 single homozygotes (J:93923)
• enlargement of the lymph nodes is reduced compared to Traf3ip2 single homozygotes (J:93923)

Mouse Models of Human Disease
OMIM ID Ref(s)
NOT Immunodeficiency with Hyper-IgM, Type 1; HIGM1 308230 J:93923




Genotype
MGI:3511169
cx7
Allelic
Composition
Traf3ip2tm1.1Lix/Traf3ip2tm1.1Lix
Tnfsf13btm1Msc/Tnfsf13btm1Msc
Genetic
Background
involves: 129 * 129S2/SvPas * BALB/c
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tnfsf13btm1Msc mutation (1 available); any Tnfsf13b mutation (6 available)
Traf3ip2tm1.1Lix mutation (0 available); any Traf3ip2 mutation (19 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hematopoietic system
• total splenic B cells, transitional B cells and follicular B cells are reduced in the spleen (J:138560)
• total splenic B cells, transitional B cells and follicular B cells are reduced in the spleen (J:138560)
• total number of mature B cells is reduced (J:138560)
• total number of mature B cells is reduced (J:138560)
• enlargement of the spleen is reduced compared to Traf3ip2 single homozygotes (J:93923)
• immunoglobulin levels are normal unlike in Traf3ip2 single homozygotes (J:93923)
• enlargement of the spleen is reduced compared to Traf3ip2 single homozygotes (J:93923)
• immunoglobulin levels are normal unlike in Traf3ip2 single homozygotes (J:93923)

immune system
• total splenic B cells, transitional B cells and follicular B cells are reduced in the spleen (J:138560)
• total splenic B cells, transitional B cells and follicular B cells are reduced in the spleen (J:138560)
• total number of mature B cells is reduced (J:138560)
• total number of mature B cells is reduced (J:138560)
• enlargement of the spleen is reduced compared to Traf3ip2 single homozygotes (J:93923)
• immunoglobulin levels are normal unlike in Traf3ip2 single homozygotes (J:93923)
• enlargement of the spleen is reduced compared to Traf3ip2 single homozygotes (J:93923)
• immunoglobulin levels are normal unlike in Traf3ip2 single homozygotes (J:93923)
• enlargement of the lymph nodes is reduced compared to Traf3ip2 single homozygotes (J:93923)
• enlargement of the lymph nodes is reduced compared to Traf3ip2 single homozygotes (J:93923)
• mutants develop anti-SSA/Ro and anti-SSB/La autoantibodies in response to recombinant SSA/Ro and SSB/La antigens, although to a lower level than in Traf3ip2 single homozygotes due to the low number of B cells, but higher levels than in Tnfsf13b single homozygotes (J:138560)
• mutants develop anti-SSA/Ro and anti-SSB/La autoantibodies in response to recombinant SSA/Ro and SSB/La antigens, although to a lower level than in Traf3ip2 single homozygotes due to the low number of B cells, but higher levels than in Tnfsf13b single homozygotes (J:138560)





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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory