Open Access Removal of Potentially Confounding Phenotypes from a Siamese-Derived Feline Glaucoma Breeding Colony

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Feline breeding colonies face genetic constraints involving founder effects. A Siamese-founded colony used to study primary congenital glaucoma displayed coat colors additional to the Siamese coat. Genes affecting pigment can exhibit pleiotropy on ocular development and function. To remove potentially confounding phenotypes from our colony, we documented the source and frequency of the Siamese allele at the gene for tyrosinase (TYR), the dilution allele at melanophilin (MLPH), and the brown allele at tyrosinase-related protein 1 (TYRP1). We used PCR–RFLP diagnostics to genotype cats in our colony for thffe published alleles. A commercially acquired phenotypically normal tom was the source of the dilute allele. A founding Siamese queen was the source of the brown allele. Founders also were blood-typed and screened for disease-associated alleles segregating in Siamese cats at 3 loci (ASB, GLB1, and CEP290). Siamese founders were normal at all loci except ASB, at which both animals carried the hypomorpic allele. Current stock is being managed to limit production of glaucomatous cats with brown, dilute, or Siamese phenotypes or homozygosity for the ASB hypomorphic allele. Genotyping will aid in the elimination of these alleles. The clinical effect of these phenotypes and alleles on the glaucoma phenotype is uncertain, but their elimination will remove potentially confounding effects. In conclusion, when founding a colony, stock should be selected or screened to limit potentially confounding phenotypes. When studying the immune, nervous, and visual systems, screening stock for alleles known to be associated with coat color may be warranted.

Document Type: Research Article

Affiliations: 1: Department of Animal Science and the Center for Integrated Animal Genomics, Iowa State University, Ames, Iowa, USA 2: Department of Animal Science and the Center for Integrated Animal Genomics, Iowa State University, Ames, Iowa, USA 3: Department of Population Health and Reproduction, University of California, Davis, Davis, California, USA 4: Depoartment of Biomedical Sciences, Iowa State University, Ames, Iowa, USA 5: Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, Iowa, USA 6: Department of Ophthalmology and Visual Sciences, University of Wisconsin-Madison, Madison, Wisconsin, USA 7: Department of Animal Science and the Center for Integrated Animal Genomics, Veterinary Clinical Sciences, Iowa State University, Ames, Iowa, USA.

Publication date: June 1, 2011

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  • Comparative Medicine (CM), an international journal of comparative and experimental medicine, is the leading English-language publication in the field and is ranked by the Science Citation Index in the upper third of all scientific journals. The mission of CM is to disseminate high-quality, peer-reviewed information that expands biomedical knowledge and promotes human and animal health through the study of laboratory animal disease, animal models of disease, and basic biologic mechanisms related to disease in people and animals.

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