Phenotypes Associated with This Genotype

Genotype
MGI:3583124

• Allelic Composition: Nphp3^pcy/Nphp3^pcy
• Genetic Background: either: D2.KK-Nphp3^pcy or (involves: DBA/2Fg * DBA/2J * KK)

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

mortality/aging

premature death ( J:11399 )

• mean age of death is 8.2+/-0.3 months and 6.5+/-0.1 months for males and females, respectively

renal/urinary system

kidney cyst ( J:11399 )

• at 4 weeks of age well-formed cysts are seen in the outer portion of the inner medulla involving proximal and distal tubules and collecting ducts

• at 30 weeks cysts dominate the kidney and kidneys have a slightly cobblestone-like appearance; however no hepatic cysts or heart valve abnormalities are seen

enlarged kidney ( J:11399 )

• by 8 weeks of age

increased kidney weight ( J:11399 )

• at 18 weeks of age kidney weight is 1.95+/-0.05 g compared to 0.66+/-0.05 g in controls; however no difference in total body weight is seen

kidney inflammation ( J:11399 )

• focal interstitial inflammatory infiltrates are seen at 18 and 30 weeks of age

dilated kidney collecting duct ( J:11399 )

• in fetal and newborn mice dilation of the collecting ducts is seen

abnormal renal glomerular capsule morphology ( J:11399 )

• focal thickening of the basement membrane is seen in Bowman's capsules

dilated renal glomerular capsule ( J:11399 )

• in fetal and newborn mice dilation of Bowman's capsule is seen

renal interstitial fibrosis ( J:11399 )

• at 18 and 30 weeks of age

abnormal renal tubule morphology ( J:11399 )

• focal thickening of the basement membrane is seen in both normal and cystic tubules

dilated distal convoluted tubule ( J:11399 )

• in fetal and newborn mice dilation of the distal tubules is seen

homeostasis/metabolism

increased blood urea nitrogen level ( J:11399 )

• blood urea nitrogen is elevated at 30 weeks but not at 8 or 18 weeks

cardiovascular system

intracranial aneurysm ( J:11399 )

• 2 out of 17 cystic mice display intracranial aneurysms

craniofacial

premature tooth eruption ( J:11399 )

• a small percentage of homozygotes display accelerated eruption of the incisors as early as 6 weeks of age

malocclusion ( J:11399 )

• early eruption of incisors caused malocclusion

skeleton

premature tooth eruption ( J:11399 )

• a small percentage of homozygotes display accelerated eruption of the incisors as early as 6 weeks of age

malocclusion ( J:11399 )

• early eruption of incisors caused malocclusion

immune system

kidney inflammation ( J:11399 )

• focal interstitial inflammatory infiltrates are seen at 18 and 30 weeks of age

growth/size/body

premature tooth eruption ( J:11399 )

• a small percentage of homozygotes display accelerated eruption of the incisors as early as 6 weeks of age

malocclusion ( J:11399 )

• early eruption of incisors caused malocclusion

kidney cyst ( J:11399 )

• at 4 weeks of age well-formed cysts are seen in the outer portion of the inner medulla involving proximal and distal tubules and collecting ducts

• at 30 weeks cysts dominate the kidney and kidneys have a slightly cobblestone-like appearance; however no hepatic cysts or heart valve abnormalities are seen

enlarged kidney ( J:11399 )

• by 8 weeks of age

increased kidney weight ( J:11399 )

• at 18 weeks of age kidney weight is 1.95+/-0.05 g compared to 0.66+/-0.05 g in controls; however no difference in total body weight is seen

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal dominant polycystic kidney disease		DOID:898		J:11399