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

First Author  Pinto LH Year  2004
Journal  Vision Res Volume  44
Issue  28 Pages  3335-45
PubMed ID  15536001 Mgi Jnum  J:102509
Mgi Id  MGI:3607678 Doi  10.1016/j.visres.2004.07.025
Citation  Pinto LH, et al. (2004) Results from screening over 9000 mutation-bearing mice for defects in the electroretinogram and appearance of the fundus. Vision Res 44(28):3335-45
abstractText  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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