Mouse Genome Informatics

involves: 129X1/SvJ * C57BL/6 * ICR
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
• die of kidney failure by 3 weeks of age
• in late stages degeneration, necrosis and hemorrhages are seen
• rapamycin treatment extends survival with some mice surviving more than 50 days

renal/urinary system
• seen in late stages of kidney failure
• extremely dilated tubules, predominantly originating from the collecting ducts
• atrophic, compressed glomeruli are seen
• hyperplastic areas with multiple layers of epithelial cells are seen along the inner surface of tubules
• kidney weight is increased 10 fold compared to controls
• some proximal tubules are highly to moderately dilated
• develop bilateral polycystic kidneys
• by 3 weeks of age

• levels of blood urea nitrogen are increased over 10 fold compared to littermate controls

• hyperplasia and renal cell carcinoma are seen by P18
• cystic renal cell carcinoma is frequently seen in extremely enlarged kidneys

cardiovascular system
• seen in late stages of kidney failure

Mouse Models of Human Disease
Birt-Hogg-Dube Syndrome; BHD 135150 J:143922