Phenotypes Associated with This Genotype

Genotype
MGI:3811282

• Allelic Composition: Pkd1^tm3Jzh/Pkd1^tm3Jzh; Tg(Ggt1-cre)M3Egn/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * SJL

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

mortality/aging

premature death ( J:140012 )

• most mice die by one month of age from renal failure

renal/urinary system

increased renal tubule apoptosis ( J:140012 )

• increased apoptosis is observed in both cysts and normal looking epithelial tubules of 2 day old mice

polycystic kidney ( J:140012 )

• cystic kidneys are first detectable at 10 days of age

• the disease is progressive with cysts dominating the kidney architecture by 26 days of age

• however, glomerular cysts are not observed

• cysts of proximal and distal origin develop at different rates with distal cysts progressively increasing in size until death

• proximal cysts stop growing at 15 days of age and start to regress or completely disappear before death

cellular

increased renal tubule apoptosis ( J:140012 )

• increased apoptosis is observed in both cysts and normal looking epithelial tubules of 2 day old mice

growth/size/body

polycystic kidney ( J:140012 )

• cystic kidneys are first detectable at 10 days of age

• the disease is progressive with cysts dominating the kidney architecture by 26 days of age

• however, glomerular cysts are not observed

• cysts of proximal and distal origin develop at different rates with distal cysts progressively increasing in size until death

• proximal cysts stop growing at 15 days of age and start to regress or completely disappear before death

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
polycystic kidney disease 1		DOID:0110858	OMIM:173900	J:140012