Phenotypes Associated with This Genotype

Genotype
MGI:3759226

• Allelic Composition: Pkd1^tm1Ggg/Pkd1⁺; Pkhd1^tm1.1Ggg/Pkhd1^tm1.1Ggg
• Genetic Background: involves: 129S/SvEv * 129S4/SvJae * C57BL/6

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

mortality/aging

premature death ( J:125113 )

• all mice die by 9 months of age

perinatal lethality, incomplete penetrance ( J:125113 )

• survival rate of pups is 41.24%

renal/urinary system

kidney cyst ( J:125113 )

• mice exhibit macroscopic cysts derived from the distal tubules and collecting ducts and thick ascending loop of Henle by 3 months of age

enlarged kidney ( J:125113 )

• by 3 months of age, all mice display enlarged kidneys with macroscopic cysts in a pattern that is similar to late-stage kidney disease in Pkhd1^tm1.1Ggg homozygotes

• kidney volume is enlarged by more than 50% of that observed in the oldest, severely affected Pkhd1^tm1.1Ggg homozygotes

dilated kidney collecting duct ( J:125113 )

• kidney collecting ducts are dilated in a large proportion of mice at birth

liver/biliary system

abnormal liver morphology ( J:125113 )

• hepatic abnormalities are more severe and develop at a younger age than in Pkhd1^tm1.1Ggg homozygotes

liver cyst ( J:125113 )

• liver cysts with fibrosis are often present on the first day after birth

growth/size/body

pancreas cyst ( J:125113 )

• pancreatic cysts are more severe and develop at a younger age than in Pkhd1^tm1.1Ggg homozygotes

• pancreatic cysts with fibrosis are often present on the first day after birth

kidney cyst ( J:125113 )

• mice exhibit macroscopic cysts derived from the distal tubules and collecting ducts and thick ascending loop of Henle by 3 months of age

liver cyst ( J:125113 )

• liver cysts with fibrosis are often present on the first day after birth

postnatal growth retardation ( J:125113 )

• growth retardation is more severe and develops at a younger age than in Pkhd1^tm1.1Ggg homozygotes

enlarged kidney ( J:125113 )

• by 3 months of age, all mice display enlarged kidneys with macroscopic cysts in a pattern that is similar to late-stage kidney disease in Pkhd1^tm1.1Ggg homozygotes

• kidney volume is enlarged by more than 50% of that observed in the oldest, severely affected Pkhd1^tm1.1Ggg homozygotes

endocrine/exocrine glands

pancreas cyst ( J:125113 )

• pancreatic cysts are more severe and develop at a younger age than in Pkhd1^tm1.1Ggg homozygotes

• pancreatic cysts with fibrosis are often present on the first day after birth