Phenotypes Associated with This Genotype

Genotype
MGI:8250788

• Allelic Composition: Lama5^mpc205H/Lama5^mpc205H
• Genetic Background: C3.B6(C)-Lama5^mpc205H

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

renal/urinary system

increased urine protein level ( J:344185 )

• significant proteinuria at 15 weeks of age on a congenic C3 background, as assessed by the urinary protein-to-urinary creatinine ratio

• Background Sensitivity: proteinuria at 25 weeks, but not at 5 or 15 weeks, of age on a congenic C57BL/6J background

podocyte foot process effacement ( J:344185 )

• complete foot process effacement at 15 weeks of age on a congenic C3 background

• Background Sensitivity: complete foot process effacement with loss of any interdigital structure at 25 weeks, but not at 15 weeks, of age on a congenic C57BL/6J background

renal glomerulus fibrosis ( J:344185 )

• fibrotic glomeruli at 15 weeks of age on a congenic C3 background

dilated renal tubule ( J:344185 )

• dilated tubules with protein casts at 15 weeks of age on a congenic C3 background

renal cast ( J:344185 )

• dilated tubules with protein casts at 15 weeks of age on a congenic C3 background

abnormal kidney physiology ( J:344185 )

• accelerated nephrotic syndrome progression with proteinuria, hypoalbuminemia, hypercholesterolemia, and ultrastructural kidney changes at 15 weeks of age on a congenic C3 background

• Background Sensitivity: delayed disease progression on a congenic C57BL/6J background, with only mild hypoalbuminemia at 15 weeks, and proteinuria and foot process effacement only detectable at 25 weeks of age

homeostasis/metabolism

increased circulating creatinine level ( J:344185 )

• increased plasma creatinine levels at 15 weeks of age on a congenic C3 background

• Background Sensitivity: normal plasma creatinine levels on a congenic C57BL/6J background up to 25 weeks of age

increased blood urea nitrogen level ( J:344185 )

• significant increase in plasma urea level at 15 weeks of age on a congenic C3 background

• Background Sensitivity: small but significant increase in plasma urea level at 25 weeks, but not at 5 or 15 weeks, of age on a congenic C57BL/6J background

increased circulating cholesterol level ( J:344185 )

• increased plasma total cholesterol levels at 15 weeks of age on a congenic C3 background

• Background Sensitivity: significant elevation of plasma total cholesterol levels at 25 weeks, but not at 15 weeks, of age on a congenic C57BL/6J background

increased circulating HDL cholesterol level ( J:344185 )

• increased plasma HDL levels at 15 weeks of age on a congenic C3 background

• Background Sensitivity: significant elevation of plasma HDL levels at 25 weeks, but not at 15 weeks, of age on a congenic C57BL/6J background

hyperlipidemia ( J:344185 )

• increased plasma total cholesterol and HDL levels at 15 weeks of age on a congenic C3 background

• Background Sensitivity: significant hyperlipidemia at 25 weeks, but not at 15 weeks, of age on a congenic C57BL/6J background

decreased circulating serum albumin level ( J:344185 )

• significant decrease in plasma albumin levels at 15 weeks of age on a congenic C3 background

• Background Sensitivity: significantly lower plasma albumin levels on a congenic C3 background than on a congenic C57BL/6J background at 15 weeks of age

increased urine protein level ( J:344185 )

• significant proteinuria at 15 weeks of age on a congenic C3 background, as assessed by the urinary protein-to-urinary creatinine ratio

• Background Sensitivity: proteinuria at 25 weeks, but not at 5 or 15 weeks, of age on a congenic C57BL/6J background

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
familial nephrotic syndrome		DOID:2590	OMIM:PS256300	J:344185