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

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

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26 Scopus citations

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.

Original language	English (US)
Pages (from-to)	3335-3345
Number of pages	11
Journal	Vision Research
Volume	44
Issue number	28 SPEC.ISS.
DOIs	https://doi.org/10.1016/j.visres.2004.07.025
State	Published - Dec 2004

Keywords

ENU
Electroretinogram
Ethynitrosourea
Forward genetics
Functional test for vision
Mouse
Mutagenesis
STR
Screening for visual function
Visual function in mouse
a-wave
b-wave
c-wave

ASJC Scopus subject areas

Ophthalmology
Sensory Systems

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10.1016/j.visres.2004.07.025

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Pinto, L. H., Vitaterna, M. H., Siepka, S. M., Shimomura, K., Lumayag, S., Baker, M., Fenner, D., Mullins, R. F., Sheffield, V. C., Stone, E. M., Heffron, E., & Takahashi, J. S. (2004). Results from screening over 9000 mutation-bearing mice for defects in the electroretinogram and appearance of the fundus. Vision Research, 44(28 SPEC.ISS.), 3335-3345. https://doi.org/10.1016/j.visres.2004.07.025

Pinto, LH, Vitaterna, MH, Siepka, SM, Shimomura, K, Lumayag, S, Baker, M, Fenner, D, Mullins, RF, Sheffield, VC, Stone, EM, Heffron, E & Takahashi, JS 2004, 'Results from screening over 9000 mutation-bearing mice for defects in the electroretinogram and appearance of the fundus', Vision Research, vol. 44, no. 28 SPEC.ISS., pp. 3335-3345. https://doi.org/10.1016/j.visres.2004.07.025

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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.",

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author = "Pinto, {Lawrence H.} and Vitaterna, {Martha Hotz} and Siepka, {Sanda M.} and Kazuhiro Shimomura and Stephen Lumayag and Matthew Baker and Deborah Fenner and Mullins, {Robert F.} and Sheffield, {Val C.} and Stone, {Edwin M.} and Edward Heffron and Takahashi, {Joseph S.}",

note = "Funding Information: We thank Drs. Laura Frishman, Neal Peachey and John Robson for their help in establishing a method for high-throughput electroretinography, Dr. Ilan Lampl for writing the programs for automatic data collection and analysis and Dr. John Heckenlively and Mr. Norman Hawes for help in mastering fundus photography of mice. Supported by NIH Cooperative Research Agreement U01MH61915.",

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doi = "10.1016/j.visres.2004.07.025",

language = "English (US)",

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pages = "3335--3345",

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AU - Shimomura, Kazuhiro

AU - Lumayag, Stephen

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AU - Fenner, Deborah

AU - Mullins, Robert F.

AU - Sheffield, Val C.

AU - Stone, Edwin M.

AU - Heffron, Edward

AU - Takahashi, Joseph S.

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PY - 2004/12

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N2 - 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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Results from screening over 9000 mutation-bearing mice for defects in the electroretinogram and appearance of the fundus

Abstract

Keywords

ASJC Scopus subject areas

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