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B. Chang, N.L. Hawes, R.E. Hurd, J. Wang, M.T. Davisson, S. Nusinowitz, J.R. Heckenlively; Selective Loss Of ERG b–Wave Caused By An Autosomal Recessive Mutation In Mice. . Invest. Ophthalmol. Vis. Sci. 2004;45(13):1019.
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© ARVO (1962-2015); The Authors (2016-present)
Purpose:A selective loss of ERG b–wave was discovered in a mouse strain with a transgene TgN(Igh2k3–83). Here we report the clinical appearance, histology, chromosomal localization, and mutant gene identification of a new hereditary model of no b–wave (nob3). Methods:We characterized the clinical effects of this mutation using serial indirect ophthalmoscopy, fundus photography, electroretinography (ERG), and histology, and performed genetic analysis including linkage studies and gene identification. Results:Mice homozygous for the nob3 mutation show a normal fundus and histology, but no rod ERG b–wave and a poor cone ERG can be detected by 3 weeks of age. Genetic analysis showed that the phenotype is not caused by the transgene TgN(Igh2k3–83). nob3 is an autosomal recessive mutation that maps to mouse Chromosome 11 closely linked to D11Mit139 at position 23 cM where the mouse gamma–aminobutyric acid (GABA–A) receptor, subunit alpha 6 (Gabra6) gene is located. Sequence analysis shows that the loss of the rod ERG b–wave is caused by a missense mutation in exon 3 of the Gabra6 gene and the gene symbol for the nob3 mutation has been changed to Gabra6nob3. Conclusions:A missense mutation in the mouse gamma–aminobutyric acid (GABA–A) receptor, subunit alpha 6 (Gabra6) gene causing loss of the rod ERG b–wave is a novel finding. The phenotype of the mice with the nob3 mutation is similar to the mice with the nob mutation that is a mouse model of CSNB1. The nob3/nob3 mutant provides a mouse model to study mechanism associated with this type of disease in human.
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