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Ocular retardation mouse caused by Chx10 homeobox null allele: impaired retinal progenitor proliferation and bipolar cell differentiation

Nature Genetics volume 12, pages 376–384 (1996)Cite this article

Abstract

Ocular retardation (or) is a murine eye mutation causing microphthalmia, a thin hypocellular retina and optic nerve aplasia. Here we show that mice carrying the orJ allele have a premature stop codon in the homeobox of the Chx1O gene, a gene expressed at high levels in uncommitted retinal progenitor cells and mature bipolar cells. No CHX10 protein was detectable in the retinal neuroepithelium of orJ homozygotes. The loss of CHX10 leads both to reduced proliferation of retinal progenitors and to a specific absence of differentiated bipolar cells. Other major retinal cell types were present and correctly positioned in the mutant retina, although rod outer segments were short and retinal lamination was incomplete. These results indicate that Chx10 is an essential component in the network of genes required for the development of the mammalian eye, with profound effects on retinal progenitor proliferation and bipolar cell specification or differentiation

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Authors and Affiliations

  1. Mental Health Research Institute, The University of Michigan, Ann Arbor, Michigan, 48109-0720, USA

    Margit Burmeister, Sharmila Basu, Frank Hoover & Daniel Goldman

  2. Department of Human Genetics, The University of Michigan, Ann Arbor, Michigan, 48109-0720, USA

    Margit Burmeister & Sharmila Basu

  3. Department of Psychiatry, The University of Michigan, Ann Arbor, Michigan, 48109-0720, USA

    Margit Burmeister

  4. Department of Biological Chemistry, The University of Michigan, Ann Arbor, Michigan, 48109-0720, USA

    Frank Hoover & Daniel Goldman

  5. Departments of Pediatrics and Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada, M5G1X8

    Jakub Novak, Lynda Ploder & Roderick R. Mclnnes

  6. Department of Molecular and Medical Genetics, University of Toronto, Toronto, Ontario, M5S1A8, Canada

    Jakub Novak & Roderick R. Mclnnes

  7. Department of Anatomy and Neurobiology, Medical College of Ohio, Toledo, Ohio, 43614, USA

    Mei-Ying Liang & Mark H. Hankin

  8. The Jackson Laboratory, Bar Harbor, Maine, 04609, USA

    Norman L. Hawes, Thomas H. Roderick & Benjamin A. Taylor

  9. Department of Anatomy and Cell Biology, University of Toronto, Toronto, Ontario, M5S1A8, Canada

    Danka Vidgen & Vitauts I. Kalnins

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  1. Margit Burmeister
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Burmeister, M., Novak, J., Liang, MY. et al. Ocular retardation mouse caused by Chx10 homeobox null allele: impaired retinal progenitor proliferation and bipolar cell differentiation. Nat Genet 12, 376–384 (1996). https://doi.org/10.1038/ng0496-376

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