Phenotypes Associated with This Genotype

Genotype
MGI:3776087

• Allelic Composition: Flcn^tm1Baba/Flcn^tm1.1Lss; Tg(Cdh16-cre)91Igr/0
• Genetic Background: involves: C57BL/6 * FVB/N * ICR * SJL

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

mortality/aging

premature death ( J:130978 )

• treatment of mice with rapamycin extends lifespan nearly 2-fold, but all animals die of renal failure

postnatal lethality, complete penetrance ( J:130978 )

• animals appear normal at birth, but develop distended abdomens and die around 3 weeks of age from renal failure

growth/size/body

kidney cyst ( J:130978 )

• at 3 weeks, kidneys are markedly cystic

distended abdomen ( J:130978 )

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

enlarged kidney ( J:130978 )

• at time of death, enlarged kidneys fill abdominal cavity; penetrance of phenotype is 100%

• enlargement begins at 1 week due to collecting duct dilation

increased kidney weight ( J:130978 )

• between P7 and P21, kidney to body weight ratio (under wet and dried conditions) dramatically increases relative to littermate controls

renal/urinary system

abnormal kidney vasculature morphology ( J:130978 )

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

increased kidney cell proliferation ( J:130978 )

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

kidney cyst ( J:130978 )

• at 3 weeks, kidneys are markedly cystic

enlarged kidney ( J:130978 )

• at time of death, enlarged kidneys fill abdominal cavity; penetrance of phenotype is 100%

• enlargement begins at 1 week due to collecting duct dilation

increased kidney weight ( J:130978 )

• between P7 and P21, kidney to body weight ratio (under wet and dried conditions) dramatically increases relative to littermate controls

abnormal kidney collecting duct morphology ( J:130978 )

• by 2 weeks, lumens of ducts are cystic

• at 3 weeks, collecting ducts in the medulla and extending into the papilla are severely cystic

dilated kidney collecting duct ( J:130978 )

• by 1 week of age, dilation of collecting ducts is observed

abnormal kidney corticomedullary boundary morphology ( J:130978 )

• anatomical distinction between cortex and medulla is disrupted

abnormal kidney pyramid morphology ( J:130978 )

• regions of pyramidal infarctions are observed at 3 weeks

abnormal renal tubule morphology ( J:130978 )

• by 2 weeks, lumens of tubules are cystic

• most cells lining the tubules are hypertrophic with enlarged nuclei and cytoplasm; many cells ar hyperplastic

dilated renal tubule ( J:130978 )

• by 2 weeks, lumens of tubules are cystic

kidney failure ( J:130978 )

• occurs around 3 weeks of age

cardiovascular system

abnormal kidney vasculature morphology ( J:130978 )

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

homeostasis/metabolism

increased blood urea nitrogen level ( J:130978 )

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

cellular

increased kidney cell proliferation ( J:130978 )

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

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Birt-Hogg-Dube syndrome		DOID:0050676	OMIM:135150	J:130978