Phenotypes Associated with This Genotype

Genotype
MGI:6103876

• Allelic Composition: Fancf^tm1Nki/Fancf^tm1Nki
• Genetic Background: involves: 129P2/OlaHsd * FVB

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

mortality/aging

premature death ( J:180025 )

• mean survival is 603 days compared to 658 days in controls

neoplasm

increased tumor incidence ( J:180025 )

• 10 of 11 mice develop tumors compared to 6 of 19 control mice

• tumor incidence is more pronounced in females compared to males

increased ovary tumor incidence ( J:180025 )

♀ • one female developed a luteoma

increased granulosa cell tumor incidence ( J:180025 )

♀ • in 4 of 7 homozygous females and not in any of the control females

♀ • one mouse developed bilateral granulosa cell tumors

increased adenoma incidence ( J:180025 )

♀ • one mouse developed a tubular adenoma in addition to a granulosa cell tumor

cellular

azoospermia ( J:180025 )

♂ • seminiferous tubules are devoid of germ cells and contain only Sertoli cells

polyploidy ( J:180025 )

• MEF cultures contain cells with DNA content higher than 4N

abnormal DNA repair ( J:180025 )

• MEFs display hypersensitivity to mitomycin C induced DNA damage, accumulating more breaks and displaying more pronounced arrest at 4N

reproductive system

azoospermia ( J:180025 )

♂ • seminiferous tubules are devoid of germ cells and contain only Sertoli cells

abnormal ovarian follicle number ( J:180025 )

♀ • ovaries contain few growing follicles at 7 and 14 weeks of age

decreased primordial ovarian follicle number ( J:180025 )

♀ • at 7 weeks of age some mice have a reduced number of follicles and by 14 weeks of age all 3 mice examined are almost or completely devoid of primordial follicles

♀ • however, at both 7 and 14 weeks of age corpus luteum are detected

small ovary ( J:180025 )

♀ • at 7 and 14 weeks of age

increased ovary tumor incidence ( J:180025 )

♀ • one female developed a luteoma

increased granulosa cell tumor incidence ( J:180025 )

♀ • in 4 of 7 homozygous females and not in any of the control females

♀ • one mouse developed bilateral granulosa cell tumors

abnormal estrous cycle ( J:180025 )

♀ • 3 of 5 females fail to progress through the estrous phases

growth/size/body

growth/size/body region phenotype ( J:180025 )

N • no growth retardation is detected at 3 months of age

homeostasis/metabolism

abnormal DNA repair ( J:180025 )

• MEFs display hypersensitivity to mitomycin C induced DNA damage, accumulating more breaks and displaying more pronounced arrest at 4N

increased circulating follicle stimulating hormone level ( J:180025 )

♀ • at 20 weeks of age

increased circulating luteinizing hormone level ( J:180025 )

♀ • at 20 weeks of age

increased physiological sensitivity to xenobiotic ( J:180025 )

• MEFs display hypersensitivity to mitomycin C induced DNA damage, accumulating more breaks and displaying more pronounced arrest at 4N

• MEFs also show reduced proliferation after mitomycin C treatment compared to control cells

endocrine/exocrine glands

abnormal ovarian follicle number ( J:180025 )

♀ • ovaries contain few growing follicles at 7 and 14 weeks of age

decreased primordial ovarian follicle number ( J:180025 )

♀ • at 7 weeks of age some mice have a reduced number of follicles and by 14 weeks of age all 3 mice examined are almost or completely devoid of primordial follicles

♀ • however, at both 7 and 14 weeks of age corpus luteum are detected

small ovary ( J:180025 )

♀ • at 7 and 14 weeks of age

increased ovary tumor incidence ( J:180025 )

♀ • one female developed a luteoma

increased granulosa cell tumor incidence ( J:180025 )

♀ • in 4 of 7 homozygous females and not in any of the control females

♀ • one mouse developed bilateral granulosa cell tumors

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
primary ovarian insufficiency		DOID:5426	OMIM:PS311360	J:180025