Phenotypes Associated with This Genotype

Genotype
MGI:5442311

• Allelic Composition: Pkd1^tm1Som/Pkd1⁺; Prkcsh^tm1Som/Prkcsh^tm1Som; Tg(Cdh16-cre)91Igr/0
• Genetic Background: involves: 129 * C57BL/6 * C57BL/6J * ICR * SJL

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

renal/urinary system

increased kidney apoptosis ( J:188763 )

• increased apoptosis in cysts compared to in cysts from Prkcsh^tm1Som/Prkcsh^tm1Som Tg(Cdh16-cre)91Igr mice

increased kidney cell proliferation ( J:188763 )

• increased cell proliferation in cysts compared to in cysts from Prkcsh^tm1Som/Prkcsh^tm1Som Tg(Cdh16-cre)91Igr mice

kidney cyst ( J:188763 )

• more severe than in Prkcsh^tm1Som/Prkcsh^tm1Som Tg(Cdh16-cre)91Igr mice

• collecting ducts form larger cysts than in Prkcsh^tm1Som/Prkcsh^tm1Som Tg(Cdh16-cre)91Igr mice

• cysts exhibit increased proliferation and apoptosis compared with cysts from Prkcsh^tm1Som/Prkcsh^tm1Som Tg(Cdh16-cre)91Igr mice

• expression Tg(Pkd2)#Som expression does not rescue cystic kidney phenotype

• however, expression of Tg(Pdk1)248Som or treatment with carfilzomib rescues cystic kidney phenotype

increased kidney weight ( J:188763 )

dilated kidney collecting duct ( J:188763 )

abnormal loop of Henle ascending limb thick segment morphology ( J:188763 )

• dilated to a lesser extent than collecting tubules

cellular

increased kidney apoptosis ( J:188763 )

• increased apoptosis in cysts compared to in cysts from Prkcsh^tm1Som/Prkcsh^tm1Som Tg(Cdh16-cre)91Igr mice

increased kidney cell proliferation ( J:188763 )

• increased cell proliferation in cysts compared to in cysts from Prkcsh^tm1Som/Prkcsh^tm1Som Tg(Cdh16-cre)91Igr mice

homeostasis/metabolism

increased blood urea nitrogen level ( J:188763 )

growth/size/body

kidney cyst ( J:188763 )

• more severe than in Prkcsh^tm1Som/Prkcsh^tm1Som Tg(Cdh16-cre)91Igr mice

• collecting ducts form larger cysts than in Prkcsh^tm1Som/Prkcsh^tm1Som Tg(Cdh16-cre)91Igr mice

• cysts exhibit increased proliferation and apoptosis compared with cysts from Prkcsh^tm1Som/Prkcsh^tm1Som Tg(Cdh16-cre)91Igr mice

• expression Tg(Pkd2)#Som expression does not rescue cystic kidney phenotype

• however, expression of Tg(Pdk1)248Som or treatment with carfilzomib rescues cystic kidney phenotype

increased kidney weight ( J:188763 )