Mouse model for mucolipidosis II.

Posted by & filed under Part 16: LYSOSOMAL DISORDERS.


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.

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Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator

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