Phenotypes Associated with This Genotype

Genotype
MGI:5617219

• Allelic Composition: Ifih1^Rgsc422/Ifih1⁺
• Genetic Background: D2JJcl.B6JJcl-Ifih1^Rgsc422

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

mortality/aging

decreased survivor rate ( J:209917 )

• 60% of mice die within 24 weeks of birth

growth/size/body

postnatal growth retardation ( J:209917 )

immune system

abnormal leukocyte cell number ( J:209917 )

increased granulocyte number ( J:209917 )

increased dendritic cell number ( J:209917 )

• increase in the numbers of conventional DCs and plasmacytoid DCs in the spleen

increased plasma cell number ( J:209917 )

• slight increase

increased macrophage cell number ( J:209917 )

• in the spleen

increased immunoglobulin level ( J:209917 )

increased IgA level ( J:209917 )

increased IgG level ( J:209917 )

increased IgM level ( J:209917 )

abnormal T cell activation ( J:209917 )

• upregulation of an activation marker, CD69, in CD4+ and CD8+ T cells

abnormal macrophage activation involved in immune response ( J:209917 )

• upregulation of the cell surface marker CD86 on macrophages in the spleen suggesting that these cells are activated

abnormal cytokine level ( J:209917 )

• increased production of inflammatory cytokines in the kidney

abnormal chemokine level ( J:209917 )

• increased production of inflammatory chemokines in the kidney

abnormal dendritic cell antigen presentation ( J:209917 )

• upregulation of the cell surface marker CD86 on conventional DCs and plasmacytoid DCs in the spleen suggesting that these cells are activated

autoimmune response ( J:209917 )

increased susceptibility to systemic lupus erythematosus ( J:209917 )

• develop severe multi-organ autoimmune disease

increased anti-nuclear antigen antibody level ( J:209917 )

increased anti-double stranded DNA antibody level ( J:209917 )

increased inflammatory response ( J:209917 )

chronic liver inflammation ( J:209917 )

• liver calcification is seen, indicative of chronic inflammation

glomerulonephritis ( J:209917 )

• lupus-like nephritis develops 6-8 weeks after birth

• transfer of bone marrow cells to irradiated wild-type mice induces a milder nephritis

skin inflammation ( J:209917 )

• mild infiltration of polymorphonuclear leukocytes in the haired skin of the forehead

liver/biliary system

chronic liver inflammation ( J:209917 )

• liver calcification is seen, indicative of chronic inflammation

integument

skin inflammation ( J:209917 )

• mild infiltration of polymorphonuclear leukocytes in the haired skin of the forehead

mixed cellular infiltration to dermis ( J:209917 )

renal/urinary system

glomerulonephritis ( J:209917 )

• lupus-like nephritis develops 6-8 weeks after birth

• transfer of bone marrow cells to irradiated wild-type mice induces a milder nephritis

hematopoietic system

abnormal leukocyte cell number ( J:209917 )

increased granulocyte number ( J:209917 )

increased dendritic cell number ( J:209917 )

• increase in the numbers of conventional DCs and plasmacytoid DCs in the spleen

increased plasma cell number ( J:209917 )

• slight increase

increased macrophage cell number ( J:209917 )

• in the spleen

increased immunoglobulin level ( J:209917 )

increased IgA level ( J:209917 )

increased IgG level ( J:209917 )

increased IgM level ( J:209917 )

abnormal T cell activation ( J:209917 )

• upregulation of an activation marker, CD69, in CD4+ and CD8+ T cells

abnormal macrophage activation involved in immune response ( J:209917 )

• upregulation of the cell surface marker CD86 on macrophages in the spleen suggesting that these cells are activated

homeostasis/metabolism

abnormal cytokine level ( J:209917 )

• increased production of inflammatory cytokines in the kidney

abnormal chemokine level ( J:209917 )

• increased production of inflammatory chemokines in the kidney

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:209917