title: Results from screening over 9000 mutation-bearing mice for defects in the electroretinogram and appearance of the fundus.
abstract: 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.
authors.affiliation: Department of Neurobiology and Physiology and Center for Functional Genomics, Northwestern University, 2205 Tech Drive, Hogan Hall 2-140, Evanston, IL 60208, USA. larry-pinto@northwestern.edu
authors.forename: Lawrence H
authors.initials: LH
authors.lastname: Pinto
authors.forename: Martha Hotz
authors.initials: MH
authors.lastname: Vitaterna
authors.forename: Sanda M
authors.initials: SM
authors.lastname: Siepka
authors.forename: Kazuhiro
authors.initials: K
authors.lastname: Shimomura
authors.forename: Stephen
authors.initials: S
authors.lastname: Lumayag
authors.forename: Matthew
authors.initials: M
authors.lastname: Baker
authors.forename: Deborah
authors.initials: D
authors.lastname: Fenner
authors.forename: Robert F
authors.initials: RF
authors.lastname: Mullins
authors.forename: Val C
authors.initials: VC
authors.lastname: Sheffield
authors.forename: Edwin M
authors.initials: EM
authors.lastname: Stone
authors.forename: Edward
authors.initials: E
authors.lastname: Heffron
authors.forename: Joseph S
authors.initials: JS
authors.lastname: Takahashi
mesh_terms: D000818:Animals; D004596:Electroretinography / Q000379:methods; D005038:Ethylnitrosourea; D005654:Fundus Oculi; D008297:Male; D051379:Mice; D008810:Mice, Inbred C57BL; D008817:Mice, Mutant Strains; D016296:Mutagenesis; D010641:Phenotype; D012160:Retina / Q000503:physiopathology; D014786:Vision Disorders / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D015351:Vision Screening / Q000379:methods*; D014785:Vision, Ocular / Q000235:genetics
chemical_list: D005038:Ethylnitrosourea