Phenotypes Associated with This Genotype

Genotype
MGI:3583121

• Allelic Composition: Nphp3^pcy/Nphp3^pcy
• Genetic Background: KK-Nphp3^pcy

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

mortality/aging

premature death ( J:8302 )

• mean life span is about 186 days with a few homozygotes living to 9 months of age

renal/urinary system

kidney cyst ( J:8302 )

• in newborns small cyst-like features are seen including distension of Bowman's capsules, proximal convoluted tubules, distal convoluted tubules, and collecting tubules

• by 25 weeks the cysts are seen on the surface of the kidney and in sections are seen in both the cortex and medulla distorting the cortico-medullary junction; however, no cysts are seen in the liver, pancreas, or lungs

enlarged kidney ( J:8302 )

• visible at 3 months of age and in 25 weeks old homozygotes the kidneys occupy almost the entire abdominal cavity

increased kidney weight ( J:8302 )

• average kidneys weight at 25 weeks of age is 3.69+/-0.59 g and 3.35+/-0.31 g in males and females, respectively, compared to 0.35+/-0.01 g in control mice

kidney inflammation ( J:8302 )

• around cysts in the distal convoluted tubules focal fibrotic areas with chronic inflammatory infiltrates are seen; however neither papillary necrosis nor amyloidosis are seen

homeostasis/metabolism

increased blood urea nitrogen level ( J:8302 )

• by 15 weeks of age

hematopoietic system

anemia ( J:8302 )

• average kidneys weight at 25 weeks of age is 3.69+/-0.59 g and 3.35+/-0.31 g in males and females, respectively, compared to 0.35+/-0.01 g in control mice

behavior/neurological

lethargy ( J:8302 )

• seen around 4 months of age

tremors ( J:8302 )

• seen around 4 months of age

growth/size/body

kidney cyst ( J:8302 )

• in newborns small cyst-like features are seen including distension of Bowman's capsules, proximal convoluted tubules, distal convoluted tubules, and collecting tubules

• by 25 weeks the cysts are seen on the surface of the kidney and in sections are seen in both the cortex and medulla distorting the cortico-medullary junction; however, no cysts are seen in the liver, pancreas, or lungs

distended abdomen ( J:8302 )

• seen at 3 months of age

enlarged kidney ( J:8302 )

• visible at 3 months of age and in 25 weeks old homozygotes the kidneys occupy almost the entire abdominal cavity

increased kidney weight ( J:8302 )

• average kidneys weight at 25 weeks of age is 3.69+/-0.59 g and 3.35+/-0.31 g in males and females, respectively, compared to 0.35+/-0.01 g in control mice

immune system

kidney inflammation ( J:8302 )

• around cysts in the distal convoluted tubules focal fibrotic areas with chronic inflammatory infiltrates are seen; however neither papillary necrosis nor amyloidosis are seen

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal dominant polycystic kidney disease		DOID:898		J:8302