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Phenotypes Associated with This Genotype
involves: 129X1/SvJ * C57BL/6 * ICR
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Flcntm1Btt mutation (0 available); any Flcn mutation (10 available)
Tg(Cdh16-cre)91Igr mutation (1 available)
phenotype observed in females
phenotype observed in males
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
OMIM ID Ref(s)
Birt-Hogg-Dube Syndrome; BHD 135150 J:143922

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 6.01
The Jackson Laboratory