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Canine Cngb3 Mutations Establish Cone Degeneration As Orthologous To The Human Achromatopsia Locus Achm3, Duska J. Sidjanin, Jennifer K. Lowe, John L. Mcelwee, Bruce S. Milne, Taryn M. Phippen, David R. Sargan, Gustavo D. Aguirre, Gregory M. Acland, Elaine A. Ostrander
Canine Cngb3 Mutations Establish Cone Degeneration As Orthologous To The Human Achromatopsia Locus Achm3, Duska J. Sidjanin, Jennifer K. Lowe, John L. Mcelwee, Bruce S. Milne, Taryn M. Phippen, David R. Sargan, Gustavo D. Aguirre, Gregory M. Acland, Elaine A. Ostrander
Gustavo D. Aguirre, VMD, PhD
Cone degeneration (cd ) is an autosomal recessive canine disease that occurs naturally in the Alaskan Malamute and German Shorthaired Pointer breeds. It is phenotypically similar to human achromatopsia, a heterogeneous autosomal recessive disorder associated with three distinct loci. Both the canine disease and its human counterparts are characterized by day-blindness and absence of retinal cone function in adults. We report linkage of the canine cd locus to marker C29.002 on canine chromosome 29 at recombination fraction 𝛉=0.0 with a maximum LOD score of 24.68 in a series of informative outbred pedigrees derived from cd-affected Alaskan Malamutes. Conserved gene order …