Phenotypes Associated with This Genotype

Genotype
MGI:3815328

• Allelic Composition: Tns2^nph/Tns2^nph
• Genetic Background: involves: ICR

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

mortality/aging

premature death ( J:24620 )

• mice develop kidney disease around 40 to 150 days after birth and death occurs within two months of onset

reproductive system

abnormal reproductive system morphology ( J:24698 )

• in severely affected mice the urogenitals look pale and watery

reduced fertility ( J:24620 )

• mice exhibit reduced fertility although a line could be maintained as long as females unaffected by the kidney disease were used for mating

renal/urinary system

increased urine protein level ( J:24698 )

albuminuria ( J:108691 )

abnormal renal/urinary system morphology ( J:24698 )

• in severely affected mice the urogenitals look pale and watery

abnormal kidney morphology ( J:24620 , J:24698 )

• mice develop kidney disease around 40 to 150 days after birth and death occurs within two months of onset (J:24620)

• the kidney surface is smooth but becomes irregular as the disease progresses (J:24698)

abnormal kidney cortex morphology ( J:24698 )

• yellowish

abnormal renal glomerulus morphology ( J:24698 )

• at early stages mice exhibit thickening of the capillary loops basement membrane and enlargement of the mesangial area compared to in wild-type mice

• thickening of the basement membrane continues as the disease progresses

glomerulonephritis ( J:108691 )

renal glomerular protein deposits ( J:24698 )

• mice exhibit glomerular lesions with granular depositions that stain positive for IgA, IgG and IgM and in severe cases glomerular C3 staining depositions are observed

renal glomerular immunoglobulin deposits ( J:24698 )

small kidney ( J:24698 )

dilated renal tubule ( J:24698 )

• in later stages mice exhibit dilation of the lumina tubules with lymphocyte infiltration around the small arteries unlike in wild-type mice

homeostasis/metabolism

increased blood urea nitrogen level ( J:24698 )

increased circulating cholesterol level ( J:24698 )

decreased circulating total protein level ( J:24698 )

edema ( J:24698 )

• mice exhibit subcutaneous edemas in the trunk with varying decrees of chylaemia

increased urine protein level ( J:24698 )

albuminuria ( J:108691 )

hematopoietic system

decreased hematocrit ( J:24698 )

immune system

enlarged lymph nodes ( J:24698 )

• occasionally

glomerulonephritis ( J:108691 )

adipose tissue

decreased abdominal adipose tissue amount ( J:24698 )

• little to no adipose tissue is present in the abdominal cavity in severely affected mice

digestive/alimentary system

abnormal intestine morphology ( J:24698 )

• in severely affected mice the intestines look pale and watery

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Pierson syndrome		DOID:0060852	OMIM:609049	J:108691