Phenotypes Associated with This Genotype

Genotype
MGI:6188648

• Allelic Composition: Pkd1^tm2Ggg/Pkd1^tm2Ggg; Tg(Hoxb7-cre)13Amc/0
• Genetic Background: involves: 129S4/SvJae * C57BL/6

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

renal/urinary system

increased kidney apoptosis ( J:171619 )

• apoptosis is increased in kidneys in P7 and P15 mice

increased kidney cell proliferation ( J:171619 )

• cell proliferation is increased in kidneys in both early and late stage of cystogenesis

polycystic kidney ( J:171619 )

• newborn mice exhibit microscopic kidney cysts derived from both cortical and medullary collecting ducts

• P7 kidneys have more and larger cysts, with less parenchyma compared to those in newborns

• by P15, mice present with huge bilateral masses on their flanks and kidneys are grossly cystic with very little normal renal parenchyma

• early and late stage of cystogenesis is associated with increased cell proliferation and increased Cux1 expression while late stage cystogenesis is associated with increased apoptosis and increased Cux1 expression

cellular

increased kidney apoptosis ( J:171619 )

• apoptosis is increased in kidneys in P7 and P15 mice

increased kidney cell proliferation ( J:171619 )

• cell proliferation is increased in kidneys in both early and late stage of cystogenesis

homeostasis/metabolism

increased blood urea nitrogen level ( J:171619 )

• BUN levels are increased at P7 and P15

growth/size/body

polycystic kidney ( J:171619 )

• newborn mice exhibit microscopic kidney cysts derived from both cortical and medullary collecting ducts

• P7 kidneys have more and larger cysts, with less parenchyma compared to those in newborns

• by P15, mice present with huge bilateral masses on their flanks and kidneys are grossly cystic with very little normal renal parenchyma

• early and late stage of cystogenesis is associated with increased cell proliferation and increased Cux1 expression while late stage cystogenesis is associated with increased apoptosis and increased Cux1 expression

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
polycystic kidney disease 1		DOID:0110858	OMIM:173900	J:171619