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Phenotypes Associated with This Genotype
Genotype
MGI:6287978
Allelic
Composition
Rubcnem1Dgre/Rubcnem1Dgre
Genetic
Background
involves: C57BL/6 * C57BL/6N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rubcnem1Dgre mutation (1 available); any Rubcn mutation (26 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• mice appear normal at weaning but fail to gain weight

hematopoietic system
• increase in levels of circulating neutrophils
• increase in levels of circulating lymphocytes
• increase in circulating activated CD8+ T cells
• increase in levels of circulating monocytes
• spleens show increased expression of interfron signature genes such as Ddx58 and Isg95
• IgG deposition in the glomeruli of kidneys
• macrophages exhibit an acute elevation of proinflammatory cytokines IL-1beta, IL-6, and IP-10, but not IL-10, in response to ingesting dying cells that is not seen in control macrophages
• however, neither bone marrow-derived macrophages nor peritoneal exudate macrophages from 52 week old mice show any defects in the engulfment of dying cells in vitro indicating normal phagocytic capacity

homeostasis/metabolism
• levels of CXCL1, CCL4 and CCL2 are increased in 52-week old mice

immune system
• increase in levels of circulating neutrophils
• increase in levels of circulating lymphocytes
• increase in circulating activated CD8+ T cells
• increase in levels of circulating monocytes
• spleens show increased expression of interfron signature genes such as Ddx58 and Isg95
• IgG deposition in the glomeruli of kidneys
• macrophages exhibit an acute elevation of proinflammatory cytokines IL-1beta, IL-6, and IP-10, but not IL-10, in response to ingesting dying cells that is not seen in control macrophages
• however, neither bone marrow-derived macrophages nor peritoneal exudate macrophages from 52 week old mice show any defects in the engulfment of dying cells in vitro indicating normal phagocytic capacity
• levels of CXCL1, CCL4 and CCL2 are increased in 52-week old mice
• mice develop a systemic lupus erythematosus-like disease (SLE)
• repeated injection of dying UV-irradiated thymocytes in mice accelerates the development of SLE-like disease, including increased serum levels of autoantibodies, glomerular immune complex deposition, and increased levels of alanine aminotransferase indicative of tissue damage
• increase in serum levels of a broad array of antibodies against autoantigens commonly associated with SLE
• increase in serum levels of anti-nuclear antibodies
• mice injected with UV-irradiated thymocytes beginning at 6 weeks of age over an 8 week period show a significant increase in serum levels of ANA and anti-dsDNA antibodies compared to wild-type mice which show minimal increases
• increase in serum levels of anti-double-stranded DNA antibodies
• mice injected with UV-irradiated thymocytes beginning at 6 weeks of age over an 8 week period show a significant increase in serum levels of ANA and anti-dsDNA antibodies compared to wild-type mice which show minimal increases
• kidneys from aged mice show endocapillary proliferative glomerulonephritis

renal/urinary system
• mice show indications of kidney damage and show increased functional markers of kidney injury
• IgG and complement C1q deposition in the glomeruli of kidneys
• kidneys from aged mice show endocapillary proliferative glomerulonephritis


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
03/24/2020
MGI 6.15
The Jackson Laboratory