Mouse Genome Informatics
cn
    Flcntm1Baba/Flcntm1.1Lss
Tg(Cdh16-cre)91Igr/0

involves: C57BL/6 * FVB/N * ICR * SJL
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• animals appear normal at birth, but develop distended abdomens and die around 3 weeks of age from renal failure
• treatment of mice with rapamycin extends lifespan nearly 2-fold, but all animals die of renal failure

growth/size/body
• by 2 weeks, mice display distended abdomens which are very pronounced at time of death

renal/urinary system
• kidneys have fine reticular pattern of interstitial tissue containing numerous blood vessels, not observed in control kidneys
• in culture, tubule cells show much higher proliferation rate than control cells
• by 2 weeks, lumens of ducts are cystic
• at 3 weeks, collecting ducts in the medulla and extending into the papilla are severely cystic
• by 1 week of age, dilation of collecting ducts is observed
• anatomical distinction between cortex and medulla is disrupted
• regions of pyramidal infarctions are observed at 3 weeks
• at time of death, enlarged kidneys fill abdominal cavity; penetrance of phenotype is 100%
• enlargement begins at 1 week due to collecting duct dilation
• between P7 and P21, kidney to body weight ratio (under wet and dried conditions) dramatically increases relative to littermate controls
• by 2 weeks, lumens of tubules are cystic
• most cells lining the tubules are hypertrophic with enlarged nuclei and cytoplasm; many cells ar hyperplastic
• by 2 weeks, lumens of tubules are cystic
• at 3 weeks, kidneys are markedly cystic
• occurs around 3 weeks of age

cardiovascular system
• kidneys have fine reticular pattern of interstitial tissue containing numerous blood vessels, not observed in control kidneys

homeostasis/metabolism
• levels are significantly elevated at 2 and 3 weeks of age, compared to controls

cellular
• in culture, tubule cells show much higher proliferation rate than control cells

Mouse Models of Human Disease
OMIM IDRef(s)
Birt-Hogg-Dube Syndrome; BHD 135150 J:130978