Mouse genetic corneal disease resulting from transgenic insertional mutagenesis.

ABSTRACT:

Background/aims

To report the generation of a new mouse model for a genetically determined corneal abnormality that occurred in transgenesis experiments.

Methods

Transgenic mice expressing mutant forms of Rab27a, a GTPase that has been implicated in the pathogenesis of choroideremia, were generated.

Results

Only one transgenic line (T27aT15) exhibited an unexpected eye phenotype. T27aT15 mice developed corneal opacities, usually unilateral, and cataracts, resulting in some cases in phthisical eyes. Histologically, the corneal stroma was thickened and vacuolated, and both epithelium and endothelium were thinned. The posterior segment of the eye was also affected with abnormal pigmentation, vessel narrowing, and abnormal leakage of dye upon angiography but was histologi

SUBMITTER: Ramalho JS 

PROVIDER: S-EPMC1772060 | biostudies-literature | 2004 Mar

REPOSITORIES: biostudies-literature