Skip NavigationSkip to Content

Expression of mutated mouse myocilin induces open-angle glaucoma in transgenic mice

  1. Author:
    Senatorov, V.
    Malyukova, I.
    Fariss, R.
    Wawrousek, E. F.
    Swaminathan, S.
    Sharan, S. K.
    Tomarev, S.
  2. Author Address

    NEI, Sect Mol Mech Glaucoma, Mol & Dev Biol Lab, NIH, Bethesda, MD 20892 USA. NEI, Biol Imaging Core, NIH, Bethesda, MD 20892 USA. NCI, Mouse Canc Genet Program, Frederick, MD 21702 USA.;Tomarev, S, NEI, Sect Mol Mech Glaucoma, Mol & Dev Biol Lab, NIH, Bethesda, MD 20892 USA.;tomarevs@nei.nih
    1. Year: 2006
    2. Date: Nov
  1. Journal: Journal of Neuroscience
    1. 26
    2. 46
    3. Pages: 11903-11914
  2. Type of Article: Article
  3. ISSN: 0270-6474
  1. Abstract:

    We developed a genetic mouse model of open-angle glaucoma by expression of mutated mouse myocilin (Myoc) in transgenic (Tg) mice. The Tyr423His point mutation, corresponding to the severe glaucoma-causing Tyr437His mutation in the human MYOC gene, was introduced into bacterial artificial chromosome DNA encoding the full-length mouse Myoc gene and long flanking regions. Both wildtype (Wt) and Tg animals expressed Myoc in tissues of the irido-corneal angle and the sclera. Expression of mutated Myoc induced the accumulation of Myoc in cell cytoplasm and prevented its secretion into the extracellular space. The levels of ATPase-1 were reduced in the irido-corneal angle of Tg mice compared with Wt animals. Tg mice demonstrated a moderate elevation of intraocular pressure, the loss of similar to 20% of the retinal ganglion cells (RGCs) in the peripheral retina, and axonal degeneration in the optic nerve. RGC depletion was associated with the shrinkage of their nuclei and DNA fragmentation in the peripheral retina. Pathological changes observed in the eyes of Tg mice are similar to those observed in glaucoma patients.

    See More

External Sources

  1. DOI: 10.1523/jneurosci.3020-06.2006
  2. WOS: 000242387000012

Library Notes

  1. No notes added.
NCI at Frederick

You are leaving a government website.

This external link provides additional information that is consistent with the intended purpose of this site. The government cannot attest to the accuracy of a non-federal site.

Linking to a non-federal site does not constitute an endorsement by this institution or any of its employees of the sponsors or the information and products presented on the site. You will be subject to the destination site's privacy policy when you follow the link.

ContinueCancel