Phenotypes Associated with This Genotype

Genotype
MGI:5486338

• Allelic Composition: Cybb^tm1Din/Cybb^tm1Din
• Genetic Background: B6.129S-Cybb^tm1Din/J

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

growth/size/body

decreased body weight ( J:235399 )

• mice appear normal at weaning but fail to gain weight

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:194294 )

♀N • wounded colonic epithelium exhibit normal phagocytic reactive oxygen species generation

increased circulating creatinine level ( J:235399 )

increased blood urea nitrogen level ( J:235399 )

abnormal circulating chemokine level ( J:235399 )

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

increased circulating interleukin-1 beta level ( J:235399 )

• in 52-week old mice

decreased circulating interleukin-10 level ( J:235399 )

• in 52-week old mice

increased circulating interleukin-12b level ( J:235399 )

• in 52-week old mice

increased circulating interleukin-6 level ( J:235399 )

• in 52-week old mice

increased urine protein level ( J:235399 )

hematopoietic system

increased neutrophil cell number ( J:235399 )

• increase in levels of circulating neutrophils

increased lymphocyte cell number ( J:235399 )

• increase in levels of circulating lymphocytes

increased monocyte cell number ( J:235399 )

• increase in levels of circulating monocytes

increased IgG level ( J:235399 )

• IgG deposition in the glomeruli of kidneys

abnormal macrophage physiology ( J:235399 )

• 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

immune system

increased neutrophil cell number ( J:235399 )

• increase in levels of circulating neutrophils

increased lymphocyte cell number ( J:235399 )

• increase in levels of circulating lymphocytes

increased monocyte cell number ( J:235399 )

• increase in levels of circulating monocytes

increased IgG level ( J:235399 )

• IgG deposition in the glomeruli of kidneys

abnormal macrophage physiology ( J:235399 )

• 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

abnormal circulating chemokine level ( J:235399 )

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

increased circulating interleukin-1 beta level ( J:235399 )

• in 52-week old mice

decreased circulating interleukin-10 level ( J:235399 )

• in 52-week old mice

increased circulating interleukin-12b level ( J:235399 )

• in 52-week old mice

increased circulating interleukin-6 level ( J:235399 )

• in 52-week old mice

increased susceptibility to systemic lupus erythematosus ( J:235399 )

• mice develop a systemic lupus erythematosus-like disease (SLE)

increased autoantibody level ( J:235399 )

• increase in serum levels of a broad array of antibodies against autoantigens commonly associated with SLE

increased anti-nuclear antigen antibody level ( J:235399 )

increased anti-double stranded DNA antibody level ( J:235399 )

glomerulonephritis ( J:235399 )

• kidneys from aged mice show endocapillary proliferative glomerulonephritis

renal/urinary system

increased urine protein level ( J:235399 )

abnormal kidney morphology ( J:235399 )

• mice show indications of kidney damage and show increased functional markers of kidney injury

abnormal renal glomerulus morphology ( J:235399 )

• IgG and complement C1q deposition in the glomeruli of kidneys

glomerulonephritis ( J:235399 )

• kidneys from aged mice show endocapillary proliferative glomerulonephritis

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:235399