Mouse Genome Informatics
hm
    Pkhd1tm1.1Ggg/Pkhd1tm1.1Ggg
involves: 129S/SvEv * 129S4/SvJae * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• a subset of mice born succumbing to respiratory failure within the first day after birth
• however, none of the mice with respiratory failure had enlarged or cystic kidneys and breeding subsequent generations from surviving homozygotes selectively eliminated prenatal and neonatal lethality
• only 29% of expected mice survive birth
• however, none of the mice with respiratory failure had enlarged or cystic kidneys and breeding subsequent generations from surviving homozygotes selectively eliminated prenatal and neonatal lethality

renal/urinary system
• kidney volume is increased due to the presence of cysts
• mice exhibit dilated kidney tubules even when no cysts are present
• mice develop varying degrees of renal cystic disease that worsens with age
• 13.7% of mice younger than 3 months of age display cysts with more mice exhibiting cysts as they age
• the number of mice with severe kidney cysts increases from 10% at a young age to 55% in older mice
• cysts radiate from the papilla to the cortex

liver/biliary system
• ductal plate malfomations develop with biliary duct proliferation, biliary cysts and mild to severe periportal fibrosis
• all mice develop biliary cysts with some mice developing choledochal cysts and ascending cholangitis
• some mice develop ascending cholangitis
• mice develop mild to severe periportal fibrosis

respiratory system
• a subset of mice born succumbing to respiratory failure within the first day after birth
• however, none of the mice with respiratory failure had enlarged or cystic kidneys and breeding subsequent generations from surviving homozygotes selectively eliminated prenatal and neonatal lethality

growth/size
• growth retardation occurs in some mice with mild extra-renal disease but proceeds it

immune system
• some mice develop ascending cholangitis

endocrine/exocrine glands
• ductal plate malfomations develop with biliary duct proliferation, biliary cysts and mild to severe periportal fibrosis
• all mice develop biliary cysts with some mice developing choledochal cysts and ascending cholangitis
• 33.3% of mice develop pancreatic cysts at older than 9 months of age
• severe pancreatic cysts are associated with choledochal cysts and massive dilation of the pancreatic duct (up to 6 cm)
• incidence of extra-renal phenotypes increases over time

Mouse Models of Human Disease
OMIM IDRef(s)
Polycystic Kidney Disease, Autosomal Recessive; ARPKD 263200 J:125113