April 2014
Volume 55, Issue 13
ARVO Annual Meeting Abstract  |   April 2014
General Survey of Eye Diseases in Laboratory 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
  • Bernie FitzMaurice
    The Jackson Laboratory, Bar Harbor, ME
  • Patsy M Nishina
    The Jackson Laboratory, Bar Harbor, ME
  • Footnotes
    Commercial Relationships Bo Chang, None; Ron Hurd, None; Jieping Wang, None; Bernie FitzMaurice, None; Patsy Nishina, None
  • Footnotes
    Support None
Investigative Ophthalmology & Visual Science April 2014, Vol.55, 6399. doi:
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      Bo Chang, Ron Hurd, Jieping Wang, Bernie FitzMaurice, Patsy M Nishina; General Survey of Eye Diseases in Laboratory Mouse Strains. Invest. Ophthalmol. Vis. Sci. 2014;55(13):6399.

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

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Purpose: Models to study eye diseases that occur in humans are important as reproducible experimental systems for elucidating pathways of normal development and function. In this report, we provide a phenotype and genotype survey of eye diseases in the collection of JAX® Mice strains at The Jackson Laboratory. Eye diseases observed ranged from retinal degenerative disorders to retinal function loss.

Methods: Ocular lesions were evaluated by a retinal imaging microscope and the image-guided OCT. Retinal function defects were detected by electroretinography (ERG). Heritability tests were performed to determine if the disease phenotypes observed were genetically transmissible and to establish mutant colonies. Genetic crosses were carried out for linkage analysis as well as gene identification.

Results: We have actively screened retired breeders for intraocular defects by fundus photography, image-guided OCT, and ERG to discover new spontaneous mutations in strains from the Genetic Resource Science (GRS) production colony. Through this process, we have found that of the strains screened, about 10% carry the Pde6brd1 mutation, 10 -15% carry the Crb1rd8 mutation and 2% carry the Gnat2cpfl3 mutation. Besides these common founder mutations, we have discovered that approximately 2% of the strains screened carry new retinal mutations. Genotyping protocols and/or phenotypic characterization of the new eye mutants are described herein.

Conclusions: Screening of retired breeders for spontaneous mutations is an excellent method to identify unique models of eye diseases. Additionally, because founder mutations in Pde6b, Crb1 or Gnat2 commonly occur in many mouse strains, genotyping for these mutations and/or avoiding mouse strains or stocks that carry these mutant alleles when studying new retinal disorders is recommended.

Keywords: 539 genetics • 696 retinal degenerations: hereditary • 534 gene mapping  

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