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Vision Res. 2004 Dec;44(28):3335-45.

Results from screening over 9000 mutation-bearing mice for defects in the electroretinogram and appearance of the fundus.

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Department of Neurobiology and Physiology and Center for Functional Genomics, Northwestern University, 2205 Tech Drive, Hogan Hall 2-140, Evanston, IL 60208, USA.


Random mutagenesis combined with phenotypic screening using carefully crafted functional tests has successfully led to the discovery of genes that are essential for a number of functions. This approach does not require prior knowledge of the identity of the genes that are involved and is a way to ascribe function to the nearly 6000 genes for which knowledge of the DNA sequence has been inadequate to determine the function of the gene product. In an effort to identify genes involved in the visual system via this approach, we have tested over 9000 first and third generation offspring of mice treated with the mutagen N-ethyl-N-nitrosourea (ENU) for visual defects, as evidenced by abnormalities in the electroretinogram and appearance of the fundus. We identified 61 putative mutations with this procedure and outline the steps needed to identify the affected genes.

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