Invest Ophthalmol Vis Sci. 2007 Nov;48(11):5221-8.

Mice lacking alpha/beta subunits of GlcNAc-1-phosphotransferase exhibit growth
retardation, retinal degeneration, and secretory cell lesions.

Gelfman CM, Vogel P, Issa TM, Turner CA, Lee WS, Kornfeld S, Rice DS.
In this paper, the authors describe a mouse model for mucolipidosis II. The mice have severe retinal degeneration, in addition to being smaller, having elevated levels of serum lysosomal enzymes, exhibiting cartilage defect and cytoplasmic alterations in secretory cells of several exocrine glands.

 
Thank you very much in advance for your contributions to this blog (Click on login to register and post a comment).

Click this link to see the most recent online abstracts of major genetics journals.
Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator