Photoreceptor degeneration and rd1 mutation in the grizzled/mocha mouse strain

Xiaoxi Qiao, Mark Pennesi, Eunju Seong, Hua Gao, Margit Burmeister, Samuel M. Wu

Research output: Contribution to journalArticle

11 Scopus citations

Abstract

The mocha mouse is a spontaneous mutant carrying a defective adaptor-like protein complex AP-3δ subunit. We examined retinal function and histology of the mocha mutant. We found that not only mocha homozygotes but also other littermates in the inbred strain are blind due to severe defects in both rod and cone photoreceptors on electroretinogram recordings. The functional deficit was caused by rapid, early postnatal photoreceptor degeneration. Genotyping confirmed the presence of a viral insertion of rd1 gene in the mocha strain. We conclude that rd1 allele contamination is primarily responsible for photoreceptor degeneration, and caution against behavioral tests with visual cues in the present stocks.

Original languageEnglish (US)
Pages (from-to)859-865
Number of pages7
JournalVision Research
Volume43
Issue number8
DOIs
StatePublished - Apr 2003

Keywords

  • Electroretinograms
  • Grizzled
  • Mocha
  • Mutant mouse
  • Photoreceptor degeneration
  • rd1 gene

ASJC Scopus subject areas

  • Ophthalmology
  • Sensory Systems

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