Phenotypes Associated with This Genotype

Genotype
MGI:6387015

• Allelic Composition: Otub1^{tm1c(EUCOMM)Hmgu}/Otub1^{tm1c(EUCOMM)Hmgu}; Cd19^tm1(cre)Cgn/Cd19⁺
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * C57BL/6N
• Cell Lines: HEPD0539_8_A05

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

immune system

enlarged spleen ( J:280549 )

decreased immature B cell number ( J:280549 )

• decrease in the frequency and absolute number of immature B cells

decreased B-1 B cell number ( J:280549 )

• decrease in the frequency of B1 cells in the peritoneal cavity

increased B cell number ( J:280549 )

• increase in B-cell frequencies in spleen, inguinal lymph nodes, and peritoneal cavity

• increase in absolute numbers of B cells

increased mature B cell number ( J:280549 )

• increase in the frequency and absolute number of mature B cells

increased B-2 B cell number ( J:280549 )

• increase in the frequency of B2 cells in the peritoneal cavity

increased marginal zone B cell number ( J:280549 )

• within the mature B-cell population, marginal zone (MZ) B cells are increased

decreased T cell number ( J:280549 )

• decrease in T-cell frequencies in spleen, inguinal lymph nodes, and peritoneal cavity

abnormal follicular B cell morphology ( J:280549 )

• while the reduced frequency of follicular B cells is due to the expansion of MZ cell population, the absolute number of follicular B cells is not reduced, but is even increased

abnormal B cell activation ( J:280549 )

• B cells exhibit increased expression of surface molecules (MHCII, CD86, CD23, CD21, and ICOSL) associated with B-cell activation

increased immunoglobulin level ( J:280549 )

• antibody deposition to kidney glomeruli is seen in 10 month old mice, but not in 8 week old mice

increased IgA level ( J:280549 )

• increase in serum and fecal IgA concentration

• increase in frequencies of IgA+ B cells in both the spleen and Peyers patches

increased IgG2a level ( J:280549 )

• increase in serum IgG2a concentration

increased IgG2b level ( J:280549 )

• increase in serum IgG2b concentration

increased IgM level ( J:280549 )

• increase in serum IgM concentration

increased circulating interleukin-6 level ( J:280549 )

• increase in serum IL-6 concentration at 10 months of age

increased susceptibility to autoimmune disorder ( J:280549 )

• mutant recipient mice transferred with BM12 CD4 T cells show a stronger autoimmune response than wild-type mice, have a higher frequency of germinal center B cells and plasma cells, a higher titer of serum autoantibodies against dsDNA and nuclear antigen, and higher levels of kidney glomerular deposition with IgG

increased susceptibility to systemic lupus erythematosus ( J:280549 )

• mice develop a lupus-like autoimmune disease

increased anti-nuclear antigen antibody level ( J:280549 )

• mice exhibit higher concentration of serum autoantibodies against nuclear antigen at 10 months of age

increased anti-double stranded DNA antibody level ( J:280549 )

• mice exhibit higher concentration of serum autoantibodies against double-stranded DNA (dsDNA) at 10 months of age

hematopoietic system

enlarged spleen ( J:280549 )

decreased immature B cell number ( J:280549 )

• decrease in the frequency and absolute number of immature B cells

decreased B-1 B cell number ( J:280549 )

• decrease in the frequency of B1 cells in the peritoneal cavity

increased B cell number ( J:280549 )

• increase in B-cell frequencies in spleen, inguinal lymph nodes, and peritoneal cavity

• increase in absolute numbers of B cells

increased mature B cell number ( J:280549 )

• increase in the frequency and absolute number of mature B cells

increased B-2 B cell number ( J:280549 )

• increase in the frequency of B2 cells in the peritoneal cavity

increased marginal zone B cell number ( J:280549 )

• within the mature B-cell population, marginal zone (MZ) B cells are increased

decreased T cell number ( J:280549 )

• decrease in T-cell frequencies in spleen, inguinal lymph nodes, and peritoneal cavity

abnormal follicular B cell morphology ( J:280549 )

• while the reduced frequency of follicular B cells is due to the expansion of MZ cell population, the absolute number of follicular B cells is not reduced, but is even increased

abnormal B cell activation ( J:280549 )

• B cells exhibit increased expression of surface molecules (MHCII, CD86, CD23, CD21, and ICOSL) associated with B-cell activation

increased immunoglobulin level ( J:280549 )

• antibody deposition to kidney glomeruli is seen in 10 month old mice, but not in 8 week old mice

increased IgA level ( J:280549 )

• increase in serum and fecal IgA concentration

• increase in frequencies of IgA+ B cells in both the spleen and Peyers patches

increased IgG2a level ( J:280549 )

• increase in serum IgG2a concentration

increased IgG2b level ( J:280549 )

• increase in serum IgG2b concentration

increased IgM level ( J:280549 )

• increase in serum IgM concentration

homeostasis/metabolism

increased circulating interleukin-6 level ( J:280549 )

• increase in serum IL-6 concentration at 10 months of age

growth/size/body

enlarged spleen ( J:280549 )