Partial rescue of the ocular retardation phenotype by genetic modifiers

Cynthia Bone-Larson, Sharmila Basu, Jeffrey D. Radel, Meiying Liang, Timothy Perozek, Natalia Kapousta-Bruneau, Daniel G. Green, Margit Burmeister, Mark H. Hankin

Research output: Contribution to journalArticlepeer-review

27 Scopus citations


The or(J) allele of the murine ocular retardation mutation is caused by a premature stop codon in the homeodomain of the Chx10 gene. When expressed on an inbred 129/Sv strain, the or(J) phenotype is characterized by microphthalmia and a thin, poorly differentiated retina in which the peripheral portion is affected to a greater extent than the central portion. Such mutant retinae lack differentiated bipolar cells and the optic nerve typically fails to form, leading to blindness. Here, we show that progeny from an outcrossed backcross between 129/Sv-or(J)/or(J) and Mus musculus castaneus produce animals that are homozygous for the or(J) mutation and exhibit a much ameliorated eye phenotype. Although not of normal size, such modified or(J) eyes are significantly larger than those in 129/Sv-or(J)/or(J) mice, and contain a better organized retina which includes bipolar cells. Furthermore, optic nerves are frequently present, and the eyes show a degree of function as reflected by electroretinogram and pupillary response. As in 129/Sv-or(J)/or(J) mice, however, modified or(J) eyes show incomplete growth and a lack of cell differentiation in the periphery of the retina. The selective, and apparently nonmodifiable, effect of the ocular retardation phenotype on the periphery of the retina indicates that Chx10 plays an important role in the central-to-peripheral gradient of retinal development. These findings demonstrate that the ocular retardation phenotype can be greatly modified by the genetic background, and help to define a role for Chx10 in ocular development.

Original languageEnglish (US)
Pages (from-to)232-247
Number of pages16
JournalJournal of Neurobiology
Issue number2
StatePublished - 2000
Externally publishedYes


  • Chx10 homeobox gene
  • Microphthalmia
  • Mouse
  • Optic nerve
  • Retina

ASJC Scopus subject areas

  • Neuroscience(all)
  • Cellular and Molecular Neuroscience


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