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Cone photoreceptor function loss-3, a novel mouse model of achromatopsia due to a mutation in Gnat2.

PURPOSE: To report a novel mouse model of achromatopsia with a cpfl3 mutation found in the ALS/LtJ strain. METHODS: The effects of a cpfl3 mutation were documented using fundus photography, electroretinography (ERG), and histopathology. Genetic analysis was performed using linkage studies and PCR gene identification. RESULTS: Homozygous cpfl3 mice had poor cone-mediated responses on ERG at 3 weeks that became undetectable by 9 months. Rod-mediated waveforms were initially normal, but declined with age. Microscopy of the retinas revealed progressive vacuolization of the photoreceptor outer segments. Immunocytochemistry with cone-specific markers showed progressive loss of labeling for alpha-transducin, but the cone outer segments in the oldest mice examined remained intact and positive with peanut agglutinin (PNA). The cpfl3 mapped to mouse chromosome 3 at the same location as human GNAT2, known to cause achromatopsia. Sequence analysis revealed a missense mutation due to a single base pair substitution in exon 6 in cpfl3. CONCLUSIONS: The Gnat2(cpfl3) mutation leads to cone dysfunction and the progressive loss of cone alpha-transducin immunolabeling. Despite a poor cone ERG signal and loss of cone alpha-transducin label, the cones survive at 14 weeks as demonstrated by PNA staining. This mouse model of achromatopsia will be useful in the study of the development, pathophysiology, and treatment of achromatopsia and other cone degenerations. The gene symbol for the cpfl3 mutation has been changed to Gnat2(cpfl3).

Pubmed ID: 17065522 RIS Download

Mesh terms: Animals | Chromosome Mapping | Color Vision Defects | Disease Models, Animal | Electroretinography | Genetic Linkage | Genotype | Heterotrimeric GTP-Binding Proteins | Mice | Mice, Mutant Strains | Mutation, Missense | Photography | Polymerase Chain Reaction | Retinal Cone Photoreceptor Cells | Retinal Degeneration | Sequence Analysis, DNA

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Associated grants

  • Agency: NCI NIH HHS, Id: CA 34196
  • Agency: NEI NIH HHS, Id: EY 07003
  • Agency: NEI NIH HHS, Id: EY 07758
  • Agency: NEI NIH HHS, Id: EY 11996
  • Agency: NEI NIH HHS, Id: R01 EY 07060

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