Mouse Genome Informatics
hm
    Foxl2tm1Gpil/Foxl2tm1Gpil
either: 129S6/SvEvTac or (involves: 129S6/SvEvTac * C57BL/6J) or (involves: 129S6/SvEvTac * NIHS-BC)
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• about 50% of homozygotes die within 1 week of birth with a 1.7 fold excess of male survivors

cellular
• the eyes are necrotic at birth

endocrine/exocrine glands
• at 1 week of age the ovary is disorganized (J:90371)
• steroidogenic cells are missing (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 (J:90371)
• by two weeks no evidence for coordinated apoptosis as seen in atretic follicles is seen in homozygous mutants (J:90371)
• 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 (J:90371)
• clusters of oocytes that would normally give rise to individual follicle do not do so in homozygous mutants by 8 weeks of age (J:90371)

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

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

reproductive system
• steroidogenic cells are missing (J:90371)
• at 1 week of age the ovary is disorganized (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 (J:90371)
• by two weeks no evidence for coordinated apoptosis as seen in atretic follicles is seen in homozygous mutants (J:90371)
• 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 (J:90371)
• clusters of oocytes that would normally give rise to individual follicle do not do so in homozygous mutants by 8 weeks of age (J:90371)
• only females are infertile (J:90371)

vision/eye
• severe eyelid hypoplasia is seen by E13.5

Mouse Models of Human Disease
OMIM IDRef(s)
Blepharophimosis, Ptosis, and Epicanthus Inversus; BPES 110100 J:90371