June 2013
Volume 54, Issue 15
ARVO Annual Meeting Abstract  |   June 2013
Survey of Common Genetic Eye Diseases in Mouse Strains
Author Affiliations & Notes
  • Bo Chang
    The Jackson Laboratory, Bar Harbor, ME
  • Ron Hurd
    The Jackson Laboratory, Bar Harbor, ME
  • Jieping Wang
    The Jackson Laboratory, Bar Harbor, ME
  • Patsy Nishina
    The Jackson Laboratory, Bar Harbor, ME
  • Footnotes
    Commercial Relationships Bo Chang, None; Ron Hurd, None; Jieping Wang, None; Patsy Nishina, None
  • Footnotes
    Support None
Investigative Ophthalmology & Visual Science June 2013, Vol.54, 265. doi:
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      Bo Chang, Ron Hurd, Jieping Wang, Patsy Nishina; Survey of Common Genetic Eye Diseases in Mouse Strains. Invest. Ophthalmol. Vis. Sci. 2013;54(15):265.

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      © ARVO (1962-2015); The Authors (2016-present)

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Purpose: As in human populations, in which founder mutations have been identified in groups of families, a number of founder mutations have been observed across strains in mice. In this report, we provide a phenotype and genotype survey of three common eye diseases in the collection of JAX® Mice strains at The Jackson Laboratory. These eye diseases are retinal degeneration 1 (Pde6brd1), retinal degeneration 8 (Crb1rd8) and cone photoreceptor function loss 3 (Gnat2cpfl3).

Methods: We have adapted the tools for examining the small size of the mouse eyes for ocular abnormalities. These tools included indirect ophthalmoscopy, slit lamp biomicroscopy, fundus photography, histopathology and electroretinography (ERG). Ocular lesions for rd1 and rd8 were evaluated by fundus examination, fundus photography, and histopathology, and the abnormal retinal function observed in mice homozygous for cpfl3 was assessed by ERG. Genotyping protocols for rd1, rd8 and cpfl3 mutation were performed by PCR with appropriate primers.

Results: We have actively screened retired breeders for surface dysmorphologies, and for intraocular defects by indirect ophthamoscopy, slit lamp biomicroscopy, and ERG to discover new spontaneous mutations in strains from the Genetic Resource Science (GRS) production colony. We have found that 99 strains have the rd1 mutation, 85 strains have the rd8 mutation and 20 strains have the cpfl3 mutation.

Conclusions: Of the 1000 number of strains screened during this study, 204 carried one of three founder mutations in pde6b, crb1 or cpfl3. Since these three retinal mutations commonly occur in various mouse strains, genotyping for these mutations and/or avoiding mouse strains or stocks carrying these mutant alleles when studying new retinal disorders would be recommended.

Keywords: 696 retinal degenerations: hereditary • 539 genetics • 537 gene screening  

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