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Phenotypes Associated with This Genotype
Genotype
MGI:3044667
Allelic
Composition
Foxl2tm1Gpil/Foxl2tm1Gpil
Genetic
Background
either: 129S6/SvEvTac or (involves: 129S6/SvEvTac * C57BL/6J) or (involves: 129S6/SvEvTac * NIHS-BC)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Foxl2tm1Gpil mutation (0 available); any Foxl2 mutation (9 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• about 50% of homozygotes die within 1 week of birth with a 1.7 fold excess of male survivors

endocrine/exocrine glands
• at 1 week of age the ovary is disorganized
• steroidogenic cells are missing
• 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
• 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
• at 1 week of age the ovary is disorganized
• steroidogenic cells are missing
• 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
• only females are infertile

vision/eye
• the eyes are necrotic at birth
• severe eyelid hypoplasia is seen by E13.5

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


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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
06/15/2016
MGI 6.04
The Jackson Laboratory