May 2007
Volume 48, Issue 13
ARVO Annual Meeting Abstract  |   May 2007
A New Mouse Model of Cone Photoreceptor Fuction Loss (cpfl7)
Author Affiliations & Notes
  • N. L. Hawes
    Jackson Laboratory, Bar Harbor, Maine
  • B. S. Harris
    Jackson Laboratory, Bar Harbor, Maine
  • R. E. Hurd
    Jackson Laboratory, Bar Harbor, Maine
  • P. Ward Bailey
    Jackson Laboratory, Bar Harbor, Maine
  • J. Wang
    Jackson Laboratory, Bar Harbor, Maine
  • M. T. Davisson
    Jackson Laboratory, Bar Harbor, Maine
  • S. Nusinowitz
    Department of Ophthalmology, Jules Stein Eye Institute, Los Angeles, California
  • J. Heckenlively
    University of Michigan, Kellogg Eye Center, Ann Arbor, Michigan
  • B. Chang
    Jackson Laboratory, Bar Harbor, Maine
  • Footnotes
    Commercial Relationships N.L. Hawes, None; B.S. Harris, None; R.E. Hurd, None; P. Ward Bailey, None; J. Wang, None; M.T. Davisson, None; S. Nusinowitz, None; J. Heckenlively, None; B. Chang, None.
  • Footnotes
    Support NIH EY07758, EY11996, RR01183
Investigative Ophthalmology & Visual Science May 2007, Vol.48, 1350. doi:
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      N. L. Hawes, B. S. Harris, R. E. Hurd, P. Ward Bailey, J. Wang, M. T. Davisson, S. Nusinowitz, J. Heckenlively, B. Chang; A New Mouse Model of Cone Photoreceptor Fuction Loss (cpfl7). Invest. Ophthalmol. Vis. Sci. 2007;48(13):1350.

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

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Purpose:: To characterize the genetics and phenotype of a new mouse mutant with a progressive cone function loss, cpfl7, that is associated with a neurological phenotype seen as an abnormal gait.

Methods:: We have identified a new mouse model of a progressive cone electroretinographic photopic functional loss by screening mouse strains and stocks at The Jackson Laboratory for genetic mouse models of human ocular disorders. We characterized the clinical effects of this mutation using serial electroretinography (ERG), fundus photography, and histology, and performed genetic analysis including linkage studies.

Results:: This new mutation has been named cone photoreceptor function loss 7 (cpfl7) because it is the seventh mutation in mice to affect cone function; it shows autosomal recessive inheritance. Mice homozygous for the cpfl7 mutation show an abnormal light-adapted ERG response and a normal a-wave but lower b-wave dark-adapted ERG response starting at 3 weeks of age. Histological results show Ganglion cell disruption and retinal segment degeneration in the peripheral retina at 3 months of age. The neurological phenotypes include leg clasping when picked up by the tail and high stepping when it walks on shavings. Genetic analysis shows that this disorder is caused by an autosomal recessive mutation that maps to mouse Chromosome 19.

Conclusions:: Cone photoreceptor function loss and the neurological phenotype combined with our genetic data suggest that this is a new mutation not previously described in mouse or human. This provides a novel mouse model for a cone photoreceptor function loss associated with neurological defects.

Keywords: gene mapping • photoreceptors: visual performance • retina 

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