Phenotypes Associated with This Genotype

Genotype
MGI:3044667

• Allelic Composition: Foxl2^tm1Gpil/Foxl2^tm1Gpil
• Genetic Background: either: 129S6/SvEvTac or (involves: 129S6/SvEvTac * C57BL/6J) or (involves: 129S6/SvEvTac * NIHS-BC)

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

mortality/aging

postnatal lethality, incomplete penetrance ( J:90371 )

• about 50% of homozygotes die within 1 week of birth with a 1.7 fold excess of male survivors

endocrine/exocrine glands

abnormal ovary morphology ( J:90371 )

♀ • at 1 week of age the ovary is disorganized

♀ • steroidogenic cells are missing

impaired ovarian folliculogenesis ( J:90371 )

♀ • granulosa cell growth and differentiation is blocked at the prefollicle stage with most oocytes being surrounded by a single layed of granulosa-like epithelial cells that lack mitotic activity

♀ • by two weeks no evidence for coordinated apoptosis as seen in atretic follicles is seen in homozygous mutants

♀ • by 8 weeks almost all oocytes had reached diameters greater than 20 um and some are undergoing apoptosis unlike in wild-type littermates where a variety of oocyte sizes is seen

♀ • clusters of oocytes that would normally give rise to individual follicle do not do so in homozygous mutants by 8 weeks of age

growth/size/body

decreased body weight ( J:90371 )

• homozygous mice weight is less than 85% that of wild-type littermates

homeostasis/metabolism

decreased circulating insulin-like growth factor I level ( J:90371 )

• serum insulin-like growth factor 1 levels a mediator of growth hormone function are reduced 60% compared to wild-type littermates

reproductive system

abnormal ovary morphology ( J:90371 )

♀ • at 1 week of age the ovary is disorganized

♀ • steroidogenic cells are missing

impaired ovarian folliculogenesis ( J:90371 )

♀ • granulosa cell growth and differentiation is blocked at the prefollicle stage with most oocytes being surrounded by a single layed of granulosa-like epithelial cells that lack mitotic activity

♀ • by two weeks no evidence for coordinated apoptosis as seen in atretic follicles is seen in homozygous mutants

♀ • by 8 weeks almost all oocytes had reached diameters greater than 20 um and some are undergoing apoptosis unlike in wild-type littermates where a variety of oocyte sizes is seen

♀ • clusters of oocytes that would normally give rise to individual follicle do not do so in homozygous mutants by 8 weeks of age

female infertility ( J:90371 )

♀ • only females are infertile

vision/eye

abnormal eye morphology ( J:90371 )

• the eyes are necrotic at birth

eyelid hypoplasia ( J:90371 )

• severe eyelid hypoplasia is seen by E13.5

eyelids open at birth ( J:90371 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
blepharophimosis, ptosis, and epicanthus inversus syndrome		DOID:14778	OMIM:110100	J:90371