Phenotypes Associated with This Genotype

Genotype
MGI:4361591

• Allelic Composition: Tg(ACTB-TNFRSF6B)754Jwu/?
• Genetic Background: B6.Cg-Tg(Actb-TNFRSF6B)754Jwu

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

mortality/aging

premature death ( J:148162 )

• shortened lifespan is observed mostly in females and transgenic mice with lymphadenopathy

• survival rate for 14 month old females is 63.2%

• survival rate for 14 month old males is 81.8%

immune system

enlarged spleen ( J:148162 )

• occurs with lymphadenopathy

• observed in 9 month old mice

increased B-1a cell number ( J:148162 )

decreased leukocyte cell number ( J:148162 )

• leukocytopenia occurs in 6/10 female transgenic mice older than 6 months of age

abnormal CD4-positive, alpha beta T cell morphology ( J:148162 )

• peripheral blood from transgenic mice older than 6 months of age contains a increased percentage of CD4+ T cell exhibiting CD62L^low and CD44^high

increased IgE level ( J:148162 )

• transgenic mice exhibit higher concentrations of IgE between 2 and 6 months

increased IgG1 level ( J:148162 )

increased IgG2b level ( J:148162 )

enlarged lymph nodes ( J:148162 )

• lymphadenopathy is observed in 6-8 month old mice

• penetrance is higher in females (64.5%) than males (20%)

• usually accompanied by splenomegaly

abnormal type IV hypersensitivity reaction ( J:148162 )

• delayed type hypersensitivity reaction is compromised in transgenic mice

increased interleukin-4 secretion ( J:148162 )

increased autoantibody level ( J:148162 )

• autoantibodies found against mutiple self tissues (liver, lung, kidney, brain) in 7 month old female with lymphadenopathy

increased anti-double stranded DNA antibody level ( J:148162 )

• 77% of female and 55% of male transgenic mice are anti-dsDNA antibody positive

hematopoietic system

enlarged spleen ( J:148162 )

• occurs with lymphadenopathy

• observed in 9 month old mice

anemia ( J:148162 )

• observed in female transgenic mice older than 6 months of age

thrombocytopenia ( J:148162 )

• observed in 3/9 female transgenic mice older than 6 months of age

increased B-1a cell number ( J:148162 )

decreased leukocyte cell number ( J:148162 )

• leukocytopenia occurs in 6/10 female transgenic mice older than 6 months of age

abnormal CD4-positive, alpha beta T cell morphology ( J:148162 )

• peripheral blood from transgenic mice older than 6 months of age contains a increased percentage of CD4+ T cell exhibiting CD62L^low and CD44^high

increased IgE level ( J:148162 )

• transgenic mice exhibit higher concentrations of IgE between 2 and 6 months

increased IgG1 level ( J:148162 )

increased IgG2b level ( J:148162 )

homeostasis/metabolism

skin edema ( J:148162 )

• mild edema and vasodilation of capillaries and small vessels observed in dermis

increased urine protein level ( J:148162 )

hematuria ( J:148162 )

leukocyturia ( J:148162 )

liver/biliary system

abnormal liver physiology ( J:148162 )

• mice older than 6 months of age exhibit periarterial lymphocyte infiltration

renal/urinary system

abnormal mesangial cell morphology ( J:148162 )

• mesangial hypertrophy

increased urine protein level ( J:148162 )

hematuria ( J:148162 )

leukocyturia ( J:148162 )

renal glomerular protein deposits ( J:148162 )

• IgG and C3 deposition is observed in glomeruli and interstitial spaces

renal glomerular immunoglobulin deposits ( J:148162 )

renal glomerulus hypertrophy ( J:148162 )

• mice older than 6 months of age exhibit enlarged glomeruli with increased glomerular epithelial cellularity and mesangial hypertrophy

renal interstitial fibrosis ( J:148162 )

• mice older than 6 months of age exhibit renal interstitial fibrosis

integument

skin edema ( J:148162 )

• mild edema and vasodilation of capillaries and small vessels observed in dermis

abnormal dermal layer morphology ( J:148162 )

• area under lesions contains granulomatous tissue consisting of collagen fibers, fibroblasts and infiltration lymphocytes

• mild edema and vasodilation of capillaries and small vessels observed in dermis

abnormal epidermal layer morphology ( J:148162 )

• hyperkeratosis and polymorphonuclear cell infiltration with follicular plugging is found in epidermal lesions

• junction between the epidermis and dermis in unclear

hyperkeratosis ( J:148162 )

skin lesions ( J:148162 )

• 40% of 12+ month old females develop lesions

• lesions are characterized by superficial crusting and erosion

cellular

abnormal mesangial cell morphology ( J:148162 )

• mesangial hypertrophy

growth/size/body

enlarged spleen ( J:148162 )

• occurs with lymphadenopathy

• observed in 9 month old mice

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:148162