Phenotypes Associated with This Genotype

Genotype
MGI:5440213

• Allelic Composition: Traf3ip2^tm1.1Lix/Traf3ip2^tm1.1Lix
• Genetic Background: B6.129-Traf3ip2^tm1.1Lix

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

immune system

immune system phenotype ( J:187766 )

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

enlarged spleen ( J:187766 )

• in 32-40 week old mutants

increased spleen weight ( J:187766 )

• in 32-40 week old mutants

spleen hyperplasia ( J:187766 )

• in 32-40 week old mutants

abnormal transitional stage B cell morphology ( 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

increased B cell number ( J:187766 )

• number of B cells in the spleen shows a trend toward a statistical increase compared to controls

• however, number of T cells in the spleen is similar to wild-type

increased immature B cell number ( J:187766 )

• 16-18 week old mutants exhibit significantly increased numbers of total immature AA4.1+B220+ B cells

increased marginal zone B cell number ( J:187766 )

• mutants exhibit elevated levels of marginal zone B cells

• however, no increase in the number of follicular mature B cells is seen

increased IgG level ( J:187766 )

• 28-32 week old mutants exhibit hypergammaglobulinemia

• however levels of IgM are normal

increased IgG1 level ( J:187766 )

increased IgG2c level ( J:187766 )

lymph node hyperplasia ( J:187766 )

• increase in cervical lymph node weight and cellularity in 32-40 week old mutants

enlarged cervical lymph nodes ( J:187766 )

• increase in cervical lymph node weight and cellularity in 32-40 week old mutants

increased autoantibody level ( J:187766 )

increased anti-nuclear antigen antibody level ( 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)

increased anti-chromatin antibody level ( J:187766 )

increased anti-double stranded DNA antibody level ( J:187766 )

increased anti-histone antibody level ( J:187766 )

hematopoietic system

enlarged spleen ( J:187766 )

• in 32-40 week old mutants

increased spleen weight ( J:187766 )

• in 32-40 week old mutants

spleen hyperplasia ( J:187766 )

• in 32-40 week old mutants

abnormal transitional stage B cell morphology ( 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

increased B cell number ( J:187766 )

• number of B cells in the spleen shows a trend toward a statistical increase compared to controls

• however, number of T cells in the spleen is similar to wild-type

increased immature B cell number ( J:187766 )

• 16-18 week old mutants exhibit significantly increased numbers of total immature AA4.1+B220+ B cells

increased marginal zone B cell number ( J:187766 )

• mutants exhibit elevated levels of marginal zone B cells

• however, no increase in the number of follicular mature B cells is seen

increased IgG level ( J:187766 )

• 28-32 week old mutants exhibit hypergammaglobulinemia

• however levels of IgM are normal

increased IgG1 level ( J:187766 )

increased IgG2c level ( J:187766 )

renal/urinary system

abnormal renal glomerulus morphology ( J:187766 )

• mutants exhibit elevated IgG deposition within the kidney glomeruli

• however, renal failure is not seen in mutants up to 12 months of age

abnormal glomerular capillary morphology ( J:187766 )

• kidneys show occasional obstruction of the capillary lumina

increased mesangial cell number ( 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

cardiovascular system

abnormal glomerular capillary morphology ( J:187766 )

• kidneys show occasional obstruction of the capillary lumina

growth/size/body

enlarged spleen ( J:187766 )

• in 32-40 week old mutants

increased spleen weight ( J:187766 )

• in 32-40 week old mutants

spleen hyperplasia ( J:187766 )

• in 32-40 week old mutants

cellular

increased mesangial cell number ( 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

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
systemic lupus erythematosus		DOID:9074	OMIM:152700 OMIM:300809 OMIM:605480 OMIM:608437 OMIM:609903 OMIM:609939 OMIM:610065 OMIM:610066 OMIM:612254 OMIM:612378 OMIM:613145 OMIM:614420	J:187766