Phenotypes Associated with This Genotype

Genotype
MGI:3029674

• Allelic Composition: Foxl2^tm1Tre/Foxl2^tm1Tre
• Genetic Background: involves: 129P2/OlaHsd * Black Swiss * CD-1

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

mortality/aging

postnatal lethality, incomplete penetrance ( J:87737 )

• although homozygotes are born at the expected ratio, 95% die before weaning

• remaining animals live up to one year

reproductive system

reproductive system phenotype ( J:87737 )

♂N • surviving males are fully fertile

impaired granulosa cell differentiation ( J:87737 )

♀ • granulosa cell differentiation is blocked at the squamous to cuboidal transition

decreased granulosa cell proliferation ( J:87737 )

♂ • no signs of granulosa proliferation

absent mature ovarian follicles ( J:87737 )

♀ • by 16 weeks ovaries are devoid of healthy follicles and oocytes

absent primordial ovarian follicles ( J:87737 )

♀ • no quiescent primordial follicles left by 8 weeks

absent secondary ovarian follicles ( J:87737 )

♀ • no secondary follicles are formed

increased atretic ovarian follicle number ( J:87737 )

♂ • widespread follicular atresia in 8-week-old ovaries

impaired ovarian folliculogenesis ( J:87737 )

♀ • at 2 weeks of age, reduced numbers of follicles

♀ • no secondary follicles are formed

♀ • granulosa cells do not complete squamous to cuboidal transition

♀ • oocytes in follicles undergoing atresia

♀ • by 8 weeks, no quiescent primordial follicles left

♀ • increased zona pellucida reminants found

♀ • no signs of granulosa proliferation

♀ • all follicles have undergone mutant development

small ovary ( J:87737 )

♀ • by 16 weeks, ovaries are approximately 1/20 normal size

female infertility ( J:87737 )

♀

cellular

impaired granulosa cell differentiation ( J:87737 )

♀ • granulosa cell differentiation is blocked at the squamous to cuboidal transition

decreased granulosa cell proliferation ( J:87737 )

♂ • no signs of granulosa proliferation

endocrine/exocrine glands

impaired granulosa cell differentiation ( J:87737 )

♀ • granulosa cell differentiation is blocked at the squamous to cuboidal transition

decreased granulosa cell proliferation ( J:87737 )

♂ • no signs of granulosa proliferation

absent mature ovarian follicles ( J:87737 )

♀ • by 16 weeks ovaries are devoid of healthy follicles and oocytes

absent primordial ovarian follicles ( J:87737 )

♀ • no quiescent primordial follicles left by 8 weeks

absent secondary ovarian follicles ( J:87737 )

♀ • no secondary follicles are formed

increased atretic ovarian follicle number ( J:87737 )

♂ • widespread follicular atresia in 8-week-old ovaries

impaired ovarian folliculogenesis ( J:87737 )

♀ • at 2 weeks of age, reduced numbers of follicles

♀ • no secondary follicles are formed

♀ • granulosa cells do not complete squamous to cuboidal transition

♀ • oocytes in follicles undergoing atresia

♀ • by 8 weeks, no quiescent primordial follicles left

♀ • increased zona pellucida reminants found

♀ • no signs of granulosa proliferation

♀ • all follicles have undergone mutant development

small ovary ( J:87737 )

♀ • by 16 weeks, ovaries are approximately 1/20 normal size

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
blepharophimosis, ptosis, and epicanthus inversus syndrome		DOID:14778	OMIM:110100	J:87737