Phenotypes associated with this allele

• Allele Symbol: Flcn^tm1Baba
• Allele Name: targeted mutation 1, Masaya Baba
• Allele ID: MGI:3774414
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Flcn^tm1Baba/Flcn^tm1.1Lss Tg(CAG-cre/Esr1*)1Lbe/0	involves: 129S1/Sv * 129X1/SvJ	MGI:5445163
cn2	Flcn^tm1Baba/Flcn^tm1.1Lss Tg(Cdh16-cre)91Igr/0	involves: C57BL/6 * FVB/N * ICR * SJL	MGI:3776087
cn3	Flcn^tm1Baba/Flcn^tm1Baba Fnip1^tm1.1Baba/Fnip1^tm1.1Baba Fnip2^tm1.1Lss/Fnip2^tm1.1Lss Tg(Cdh16-cre)91Igr/0	involves: C57BL/6 * ICR	MGI:5897115

Genotype
MGI:5445163

cn1

• Allelic Composition: Flcn^tm1Baba/Flcn^tm1.1Lss; Tg(CAG-cre/Esr1*)1Lbe/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

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

immune system

arrested B cell differentiation ( J:189078 )

• pro-B cell block in the bone marrow following tamoxifen-treatment

decreased B cell number ( J:189078 )

• CD19+ cells in the spleen following tamoxifen-treatment

renal/urinary system

kidney cyst ( J:189078 )

• in tamoxifen-treated mice

• in tamoxifen-treated mice however, kidney phenotype is rescued by rapamycin treatment

kidney failure ( J:189078 )

• in tamoxifen-treated mice

• however, kidney phenotype is rescued by rapamycin treatment

hematopoietic system

arrested B cell differentiation ( J:189078 )

• pro-B cell block in the bone marrow following tamoxifen-treatment

decreased B cell number ( J:189078 )

• CD19+ cells in the spleen following tamoxifen-treatment

growth/size/body

kidney cyst ( J:189078 )

• in tamoxifen-treated mice

• in tamoxifen-treated mice however, kidney phenotype is rescued by rapamycin treatment

Genotype
MGI:3776087

cn2

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

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

Genotype
MGI:5897115

cn3

• Allelic Composition: Flcn^tm1Baba/Flcn^tm1Baba; Fnip1^tm1.1Baba/Fnip1^tm1.1Baba; Fnip2^tm1.1Lss/Fnip2^tm1.1Lss; Tg(Cdh16-cre)91Igr/0
• Genetic Background: involves: C57BL/6 * ICR

renal/urinary system

polycystic kidney ( J:220672 )

• no increase in severity of cystic phenotype compared to mutant mice wild-type for Flcn

enlarged kidney ( J:220672 )

• no increase in severity of phenotype compared to mutant mice wild-type for Flcn

growth/size/body

polycystic kidney ( J:220672 )

• no increase in severity of cystic phenotype compared to mutant mice wild-type for Flcn

enlarged kidney ( J:220672 )

• no increase in severity of phenotype compared to mutant mice wild-type for Flcn