Phenotypes Associated with This Genotype

Genotype
MGI:6360613

• Allelic Composition: Rhpn1^tm1Ktry/Rhpn1^tm1Ktry
• Genetic Background: involves: 129X1/SvJ * C57BL/6

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

homeostasis/metabolism

albuminuria ( J:276466 )

• heterogeneity in the progression of albuminuria is seen on the mixed background, with mice presenting albuminuria by 2 weeks of age and the majority of mice having severe albuminuria by 2-4 months of age

• Background Sensitivity: mice on the mixed background are more albumuminuric than mice on the congenic C57BL/6 background

• however, serum creatinine levels are unchanged and no increased mortality is seen

renal/urinary system

enlarged kidney ( J:276466 )

• increase in kidney size due to increase in glomerular size

albuminuria ( J:276466 )

• heterogeneity in the progression of albuminuria is seen on the mixed background, with mice presenting albuminuria by 2 weeks of age and the majority of mice having severe albuminuria by 2-4 months of age

• Background Sensitivity: mice on the mixed background are more albumuminuric than mice on the congenic C57BL/6 background

• however, serum creatinine levels are unchanged and no increased mortality is seen

abnormal podocyte morphology ( J:276466 )

• primary podocytes show ventral stress fibers that span across the cell body and do not adopt the same convex morphology and concentrated peripheral actin network seen in wild-type podocytes

abnormal podocyte foot process morphology ( J:276466 )

• at the basal aspect of podocyte processes abutting the glomerular basement membrane, membrane invaginations are irregularities can be seen

• severely albuminuric mice show a loss of the slender foot processes and their replacement with broader, stubby processes that have microvillus transformation on the apical surface

podocyte foot process effacement ( J:276466 )

abnormal podocyte slit diaphragm morphology ( J:276466 )

• reduction in the number of slits circumnavigating capillary loops

• slit diaphragms are occasionally seen spanning the gap between two adjacent foot processes

podocyte microvillus transformation ( J:276466 )

• severely albuminuric mice show a loss of the slender foot processes and their replacement with broader, stubby processes that have microvillus transformation on the apical surface

increased renal glomerulus basement membrane thickness ( J:276466 )

• thickening and remodeling of the glomerular basement membrane that accompanies food process effacement

abnormal renal glomerulus morphology ( J:276466 )

• glomerular damage, both focal and segmental

• increase in glomerular size is seen before glomeruli become atrophic and sclerotic

• glomeruli from 1-week old mice tend to have areas of food process effacement and a reduction in slit frequency that are more prominent than glomerular basement membrane changes

abnormal glomerular mesangium morphology ( J:276466 )

• early on, mesangial expansion is seen, with no changes in the tubular compartment of kidneys

• mice with severe albuminuria at 2 months show increased mesangial expansion

glomerulosclerosis ( J:276466 )

• mice with severe albuminuria at 2 months of age show prominent sclerotic lesions consistent with focal segmental glomerulosclerosis

renal glomerular synechia ( J:276466 )

• mice with severe albuminuria at 2 months show renal glomerular synechia

renal cast ( J:276466 )

• protein casts are seen in tubular lumens of mice with macroalbuminuria

growth/size/body

enlarged kidney ( J:276466 )

• increase in kidney size due to increase in glomerular size