Phenotypes Associated with This Genotype

Genotype
MGI:3829652

• Allelic Composition: Flcn^tm1Btt/Flcn^tm1Btt; Tg(Cdh16-cre)91Igr/0
• Genetic Background: involves: 129S4/SvJaeSor * C57BL/6 * ICR

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

mortality/aging

postnatal lethality, complete penetrance ( J:143922 )

• 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

kidney hemorrhage ( J:143922 )

• seen in late stages of kidney failure

polycystic kidney ( J:143922 )

• develop bilateral polycystic kidneys

increased kidney weight ( J:143922 )

• kidney weight is increased 10 fold compared to controls

increased renal carcinoma incidence ( J:143922 )

• hyperplasia and renal cell carcinoma are seen by P18

• cystic renal cell carcinoma is frequently seen in extremely enlarged kidneys

dilated kidney collecting duct ( J:143922 )

• extremely dilated tubules, predominantly originating from the collecting ducts

renal glomerulus atrophy ( J:143922 )

• atrophic, compressed glomeruli are seen

abnormal renal tubule epithelium morphology ( J:143922 )

• hyperplastic areas with multiple layers of epithelial cells are seen along the inner surface of tubules

dilated proximal convoluted tubule ( J:143922 )

• some proximal tubules are highly to moderately dilated

kidney failure ( J:143922 )

• by 3 weeks of age

homeostasis/metabolism

increased blood urea nitrogen level ( J:143922 )

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

neoplasm

increased renal carcinoma incidence ( J:143922 )

• hyperplasia and renal cell carcinoma are seen by P18

• cystic renal cell carcinoma is frequently seen in extremely enlarged kidneys

cardiovascular system

kidney hemorrhage ( J:143922 )

• seen in late stages of kidney failure

growth/size/body

polycystic kidney ( J:143922 )

• develop bilateral polycystic kidneys

increased kidney weight ( J:143922 )

• kidney weight is increased 10 fold compared to controls

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Birt-Hogg-Dube syndrome		DOID:0050676	OMIM:135150	J:143922
nonpapillary renal cell carcinoma		DOID:0050387	OMIM:144700	J:143922