Phenotypes Associated with This Genotype

Genotype
MGI:3617490

• Allelic Composition: Pkd1^tm2Jzh/Pkd1⁺
• Genetic Background: either: (involves: 129S4/SvJae * BALB/c) or (involves: 129S4/SvJae * C57BL/6)

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

renal/urinary system

kidney cyst ( J:72627 )

• microscopic kidney cysts are seen as early as 2.5 months of age, much earlier than in heterozygous Pkd1^tm1Jzh mice

• 70% or 2.5-14.5 month old mice have 2-30 cysts

liver/biliary system

liver cyst ( J:72627 )

• 48% develop visible liver cysts that are first observed at 11 months of age and all have cysts at later stages (18-24 months)

endocrine/exocrine glands

pancreas cyst ( J:72627 )

• 1 of 21 mice develop a pancreatic cyst at 14.5 months of age

growth/size/body

pancreas cyst ( J:72627 )

• 1 of 21 mice develop a pancreatic cyst at 14.5 months of age

kidney cyst ( J:72627 )

• microscopic kidney cysts are seen as early as 2.5 months of age, much earlier than in heterozygous Pkd1^tm1Jzh mice

• 70% or 2.5-14.5 month old mice have 2-30 cysts

liver cyst ( J:72627 )

• 48% develop visible liver cysts that are first observed at 11 months of age and all have cysts at later stages (18-24 months)

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
polycystic kidney disease 1		DOID:0110858	OMIM:173900	J:72627