Phenotypes Associated with This Genotype

Genotype
MGI:5432033

• Allelic Composition: Cfh^tm1Mbo/Cfh^tm1Mbo; Tg(CAG-Cfh*)#Mcp/0
• Genetic Background: involves: 129/Sv * C57BL/6 * CBA

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

mortality/aging

premature death ( J:125860 )

• all mice develop hematuria and anasarca or die before 12 weeks of age

renal/urinary system

hematuria ( J:125860 )

• all mice develop hematuria and anasarca or die before 12 weeks of age

• at 8 weeks of age most (9 of 15) mice develop hematuria and anasarca

kidney failure ( J:125860 )

• associated with renal thrombotic microangiopathy

hematopoietic system

schistocytosis ( J:125860 )

• red cell fragmentation in the peripheral blood in mice with hematuria

thrombocytopenia ( J:125860 )

• in mice with hematuria

homeostasis/metabolism

increased blood urea nitrogen level ( J:125860 )

• in mice with hematuria

abnormal kidney thrombosis ( J:125860 )

• thrombotic microangiopathy is seen in mice with hematuria

anasarca ( J:125860 )

• all mice develop hematuria and anasarca (generalized edema) or die before 12 weeks of age

• at 8 weeks of age most (9 of 15) mice develop hematuria and anasarca

abnormal complement protein level ( J:125860 )

• C3 deposition along the endothelium, within the smooth muscle of renal arteries and within the glomerular mesangium and capillary walls

abnormal circulating complement protein level ( J:125860 )

• decrease in C3 levels, but increased compared to mice homozygous for Cfh^tm1Mbo alone

hematuria ( J:125860 )

• all mice develop hematuria and anasarca or die before 12 weeks of age

• at 8 weeks of age most (9 of 15) mice develop hematuria and anasarca

immune system

abnormal complement protein level ( J:125860 )

• C3 deposition along the endothelium, within the smooth muscle of renal arteries and within the glomerular mesangium and capillary walls

abnormal circulating complement protein level ( J:125860 )

• decrease in C3 levels, but increased compared to mice homozygous for Cfh^tm1Mbo alone

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hemolytic-uremic syndrome		DOID:12554		J:125860