Phenotypes Associated with This Genotype

Genotype
MGI:3583122

• Allelic Composition: Nphp3^pcy/Nphp3^pcy
• Genetic Background: involves: DBA/2Fg * KK

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

renal/urinary system

kidney cyst ( J:2203 )

• at 120 days of age extensive cyst growth is seen

enlarged kidney ( J:2203 )

• at 120 days of age kidneys are 4-times larger than wild-type controls

homeostasis/metabolism

abnormal cholesterol homeostasis ( J:2203 )

• the kidney ratio of cholesterol to phospholipid is elevated; however the kidney total cholesterol level is not significantly different from wild-type

increased circulating cholesterol level ( J:2203 )

• at 120 days of age total serum cholesterol levels are elevated

abnormal phospholipid level ( J:2203 )

• the kidney ratio of cholesterol to phospholipid is elevated; however the kidney total phospholipid level is not significantly different from wild-type

• the kidney choline glycerophospholipid/ethanolamine glycerophospholipid ratio as well as the general ether phospholipid content is elevated and the docosahexaenoic acid level is decreased similar to changes often seen in neoplastic cells

abnormal circulating phospholipid level ( J:2203 )

• at 120 days of age total serum phospholipid levels are elevated

• the kidney ratio of cholesterol to phospholipid is elevated; however the kidney total phospholipid level is not significantly different from wild-type

growth/size/body

kidney cyst ( J:2203 )

• at 120 days of age extensive cyst growth is seen

enlarged kidney ( J:2203 )

• at 120 days of age kidneys are 4-times larger than wild-type controls