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

Research output: Contribution to journalArticle

23 Citations (Scopus)

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 languageEnglish (US)
Pages (from-to)3335-3345
Number of pages11
JournalVision Research
Volume44
Issue number28 SPEC.ISS.
DOIs
StatePublished - Dec 2004

Fingerprint

Mutation
Genes
Ethylnitrosourea
Essential Genes
Mutagens
Genetic Association Studies
Mutagenesis

Keywords

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

ASJC Scopus subject areas

  • Ophthalmology
  • Sensory Systems

Cite this

Results from screening over 9000 mutation-bearing mice for defects in the electroretinogram and appearance of the fundus. / Pinto, Lawrence H.; Vitaterna, Martha Hotz; Siepka, Sanda M.; Shimomura, Kazuhiro; Lumayag, Stephen; Baker, Matthew; Fenner, Deborah; Mullins, Robert F.; Sheffield, Val C.; Stone, Edwin M.; Heffron, Edward; Takahashi, Joseph S.

In: Vision Research, Vol. 44, No. 28 SPEC.ISS., 12.2004, p. 3335-3345.

Research output: Contribution to journalArticle

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
Pinto, Lawrence H. ; Vitaterna, Martha Hotz ; Siepka, Sanda M. ; Shimomura, Kazuhiro ; Lumayag, Stephen ; Baker, Matthew ; Fenner, Deborah ; Mullins, Robert F. ; Sheffield, Val C. ; Stone, Edwin M. ; Heffron, Edward ; Takahashi, Joseph S. / Results from screening over 9000 mutation-bearing mice for defects in the electroretinogram and appearance of the fundus. In: Vision Research. 2004 ; Vol. 44, No. 28 SPEC.ISS. pp. 3335-3345.
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