May 2003
Volume 44, Issue 13
ARVO Annual Meeting Abstract  |   May 2003
Characterization of a Mouse Model of Distichiasis
Author Affiliations & Notes
  • B.P. Brooks
    National Human Genome Research Institute and National Eye Institute, National Institutes of Health, Bethesda, MD, United States
  • S.L. Dagenais
    Human Genetics, University of Michigan, Ann Arbor, MI, United States
  • M.S. Caulder
    Human Genetics, University of Michigan, Ann Arbor, MI, United States
  • T.W. Glover
    Human Genetics, University of Michigan, Ann Arbor, MI, United States
  • Footnotes
    Commercial Relationships  B.P. Brooks, None; S.L. Dagenais, None; M.S. Caulder, None; T.W. Glover, None.
  • Footnotes
    Support  NIH Grant CA 43222
Investigative Ophthalmology & Visual Science May 2003, Vol.44, 4525. doi:
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      B.P. Brooks, S.L. Dagenais, M.S. Caulder, T.W. Glover; Characterization of a Mouse Model of Distichiasis . Invest. Ophthalmol. Vis. Sci. 2003;44(13):4525.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract: : Lymphedema-distichiasis (LD) syndrome (OMIM#153400) is an autosomal dominant disorder characterized by aberrant lashes arising from the meibomian glands (distichiasis) and peripheral lymphedema with pubertal onset. Other less penetrant clinical features include cardiac defects, cleft palate, photophobia, ptosis, and webbed neck. We recently identified FOXC2 as the causative gene of LD. Loss-of function mutations of this gene, which codes for a 501 amino acid forkhead-family transcription factor, have now been described in multiple LD pedigrees. Mice homozygously deficient for Foxc2 die embryonically with heart, vertebral, and cranial defects (Iida et al. 1997) Purpose: To characterize the ocular phenotype of heterozygous Foxc2 knockout mice, which is analogous to the heterozygous genotype of LD patients. Methods: Examination of the anterior segment and eyelids of heterozygote knockout and wild-type mice was performed in a masked fashion in vivo and with histopathology. Results: While penetrance of distichiasis in LD is over 90%, we observed 100% penetrance of distichiasis in heterozygous Foxc2 knockout mice. Histologic examination of the eyelids from heterozygous knockout mice demonstrated aberrant lashes arising from otherwise normal meibomian glands. Conclusions: These mice provide a valuable model for the investigation of the genetics of distichiasis and the normal development of meibomian glands.

Keywords: eyelid • animal model • transcription factors 

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