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

Lawrence H Pinto; Martha Hotz Vitaterna; Sanda M Siepka; Kazuhiro Shimomura; Stephen Lumayag; Matthew Baker; Deborah Fenner; Robert F Mullins; Val C Sheffield; Edwin M Stone; Edward Heffron; Joseph S Takahashi

doi:10.1016/j.visres.2004.07.025

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

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

Lawrence H Pinto, Martha Hotz Vitaterna, Sanda M Siepka, Kazuhiro Shimomura, Stephen Lumayag, Matthew Baker, Deborah Fenner, Robert F Mullins, Val C Sheffield, Edwin M Stone, …

Vision Research, Vol.44(28), pp.3335-3345

2004

DOI: 10.1016/j.visres.2004.07.025

PMCID: PMC3756145

PMID: 15536001

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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.

Mutagenesis

Functional test for vision

c-wave

b-wave

Forward genetics

ENU

Ethynitrosourea

STR

a-wave

Mouse

Electroretinogram

Screening for visual function

Visual function in mouse

Details

Title: Subtitle: Results from screening over 9000 mutation-bearing mice for defects in the electroretinogram and appearance of the fundus
Creators: Lawrence H Pinto - Northwestern University
Martha Hotz Vitaterna - Northwestern University
Sanda M Siepka - Northwestern University
Kazuhiro Shimomura - Northwestern University
Stephen Lumayag - Northwestern University
Matthew Baker - Northwestern University
Deborah Fenner - Northwestern University
Robert F Mullins - Department of Ophthalmology & Visual Sciences and Howard Hughes Medical Institute, University of Iowa, Iowa City, IA 52242, USA
Val C Sheffield - Department of Pediatrics, University of Iowa, Iowa City, IA 52242, USA
Edwin M Stone - Department of Ophthalmology & Visual Sciences and Howard Hughes Medical Institute, University of Iowa, Iowa City, IA 52242, USA
Edward Heffron - Department of Ophthalmology & Visual Sciences and Howard Hughes Medical Institute, University of Iowa, Iowa City, IA 52242, USA
Joseph S Takahashi - Northwestern University
Resource Type: Journal article
Publication Details: Vision Research, Vol.44(28), pp.3335-3345
DOI: 10.1016/j.visres.2004.07.025
PMID: 15536001
PMCID: PMC3756145
NLM abbreviation: Vision Res
ISSN: 0042-6989
eISSN: 1878-5646
Publisher: Elsevier Ltd
Language: English
Date published: 2004
Academic Unit: Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Medical Genetics and Genomics; Ophthalmology and Visual Sciences
Record Identifier: 9983979971102771

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