Phenotypes Associated with This Genotype

Genotype
MGI:5429577

• Allelic Composition: Cd151^tm1Lka/Cd151^tm1Lka
• Genetic Background: FVB.B6-CD151^tm1Lka

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

mortality/aging

premature death ( J:139653 )

• homozygotes die of kidney failure at around 5 months of age

renal/urinary system

enlarged kidney ( J:139653 )

• at 4-5 months of age, homozygotes display enlarged kidneys

increased urine protein level ( J:139653 )

• on a FVB/N background, proteinuria is detected as early as 5 days of age and increases progressively to become massive at 12 weeks

• Background Sensitivity: homozygotes on a C57BL/6 background remain healthy and exhibit no signs of proteinuria up to 12 months of age

abnormal podocyte morphology ( J:139653 )

• at 3 weeks of age, all glomeruli examined by SEM display some extent of podocyte damage; cell bodies appear flattened and the processes are disorganized but still present

podocyte foot process effacement ( J:139653 )

• at 3 weeks of age, TEM analysis indicated only focal effacement of foot processes, even along the massively thickened GBM segments

• SEM analysis revealed pronounced foot process effacement by 12 weeks of age

decreased podocyte number ( J:139653 )

• at 3 weeks and 12 weeks of age, homozygotes display a significant decrease in podocyte number per glomerulus (22.2% and 28.4%, respectively) relative to wild-type controls

abnormal renal glomerulus basement membrane morphology ( J:139653 )

• massive thickening and splitting of the GBM is seen as early as 5 days in some segments of glomeruli

• at 3 weeks of age, GBM disorganization is more severe and involves more capillary loops

• immunofluorescence labeling with antibodies towards laminin chains, nidogen, and collagen IV chains revealed a defect in GBM assembly and maturation

increased renal glomerulus basement membrane thickness ( J:139653 )

• at 3-4-weeks of age, homozygotes display extensive thickening of the GBM with no evidence of sclerotic lesions

• by 12 weeks of age, most (4 of 5) homozygotes display abnormal thickening of the GBM

abnormal renal glomerulus morphology ( J:139653 )

• at 4 weeks of age, homozygotes exhibit mild glomerular damage consisting exclusively of GBM thickening

• by 12 week of age, all homozygotes show significantly increased kidney damage, ranging from moderate glomerular damage to more severe glomerular damage associated with tubular lesions

expanded mesangial matrix ( J:139653 )

• at 4 weeks of age, focal thickening of the extracellular matrix is observed in some glomeruli

glomerulosclerosis ( J:139653 )

• by 12 weeks of age, a few homozygotes display massive glomerulosclerosis and collapse of the glomerular tuft

renal glomerular synechia ( J:139653 )

• at 12 weeks of age, some sclerotic glomeruli exhibit partial or complete adhesion to the Bowman's capsule

dilated renal tubule ( J:139653 )

• at 12 weeks of age, 1 of 5 homozygotes displayed severe and advanced glomerular lesions associated with massive tubular dilations

renal cast ( J:139653 )

• by 12 weeks of age, most (4 of 5) homozygotes display obstruction of the renal tubules with proteinaceous casts

granular kidney ( J:139653 )

• at 4-5 months of age, homozygotes display granular kidneys

kidney failure ( J:139653 )

• at 4-5 months of age, homozygotes on a FVB/N background display progressive kidney failure, eventually leading to death

• Background Sensitivity: homozygotes on a C57BL/6 background remain healthy and exhibit histologically normal kidneys up to 12 months of age

homeostasis/metabolism

edema ( J:139653 )

• at 4-5 months of age, homozygotes appear unwell and edematous

increased urine protein level ( J:139653 )

• on a FVB/N background, proteinuria is detected as early as 5 days of age and increases progressively to become massive at 12 weeks

• Background Sensitivity: homozygotes on a C57BL/6 background remain healthy and exhibit no signs of proteinuria up to 12 months of age

growth/size/body

enlarged kidney ( J:139653 )

• at 4-5 months of age, homozygotes display enlarged kidneys