Abstract
Abstract: :
Purpose: To generate taurine transporter gene knock-out in mice and define the gene function in vivo. To identify its phenotype in relation with ocular diseases. To study the taurine transporter (taut) gene expression profile in ocular tissues. Methods: We used a large-scale reverse genetics approach based on genome wide gene trapping technology to define the function of the taurine transporter gene. The mutation results in complete inactivation of the taurine transporter gene by the retroviral insertion integrating into the 5’ genomic region. As part of a high-throughput screen for defects in eye function and development, we examined wild-type, heterozygous and homozygous adult mice using fundus photography and fluorescein angiogram imaging. Histopathology was used to further define the effect of lacking the gene product in mutant mice. Immunohistochemistry was used to define the expression pattern of a marker gene expressed from the endogenous locus. Results: Homozygous mutant mice for the taut gene exhibited significant defects, while heterozygous and wild-type littermates exhibited no phenotype with fundus and angiogram examination. These defects were also evaluated with electroretinogram (ERG) and visual-evoked potential (VEP) tests. Histology analysis results of taut homozygous mice were consistent with the phenotype detected with fundus microscopy and ERG analysis. Pre- and postnatal development studies defined the age when the phenotypes appear in these mutant mice. Conclusion: Overall, these findings demonstrate that the taut gene plays an important role in the development and maintenance of the normal function of the eye.
Keywords: 561 retinal degenerations: cell biology • 606 transgenics/knock-outs • 514 pharmacology