Phenotypes Associated with This Genotype

Genotype
MGI:5476836

• Allelic Composition: Pkd1^tm1.1Pcha/Pkd1^tm1.1Pcha
• Genetic Background: involves: 129S1/Sv * C57BL/6

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

Polycystic kidney disease in Pkd1^tm1.1Pcha/Pkd1^tm1.1Pcha mice

renal/urinary system

polycystic kidney ( J:193544 )

• mice develop mild but progressive polycystic kidney disease

• as early as E16.5

• at P1, cysts arise primarily from the proximal tubule

• at 3 months, cysts arise primarily from the collecting duct

• at 3 months, cysts range form 0.3 to 2.5 mm

• cyst burden varies but increased with time

enlarged kidney ( J:193544 )

• kidney volume increases progressively over time until 12 months of age

increased kidney weight ( J:193544 )

• increases progressively over time until 12 months of age

increased renal hamartoma incidence ( J:193544 )

• multiple ductal plate malformations, such as microhamartomas, in most mice by 12 months

abnormal kidney collecting duct morphology ( J:193544 )

• multiple ductal plate malformations, such as microhamartomas, in most mice by 12 months

dilated proximal convoluted tubule ( J:193544 )

renal fibrosis ( J:193544 )

• increases over time

homeostasis/metabolism

increased blood urea nitrogen level ( J:193544 )

• by 9 months of age

neoplasm

increased renal hamartoma incidence ( J:193544 )

• multiple ductal plate malformations, such as microhamartomas, in most mice by 12 months

growth/size/body

polycystic kidney ( J:193544 )

• mice develop mild but progressive polycystic kidney disease

• as early as E16.5

• at P1, cysts arise primarily from the proximal tubule

• at 3 months, cysts arise primarily from the collecting duct

• at 3 months, cysts range form 0.3 to 2.5 mm

• cyst burden varies but increased with time

enlarged kidney ( J:193544 )

• kidney volume increases progressively over time until 12 months of age

increased kidney weight ( J:193544 )

• increases progressively over time until 12 months of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
polycystic kidney disease 1		DOID:0110858	OMIM:173900	J:193544