Open Access Research article

Genomic deletion of CNGB3 is identical by descent in multiple canine breeds and causes achromatopsia

Connie Y Yeh12, Orly Goldstein3, Anna V Kukekova34, Debbie Holley5, Amy M Knollinger6, Heather J Huson7, Susan E Pearce-Kelling8, Gregory M Acland3 and András M Komáromy12*

Author Affiliations

1 Department of Clinical Studies, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA

2 Department of Small Animal Clinical Sciences, College of Veterinary Medicine, Michigan State University, East Lansing, MI 48824, USA

3 James A. Baker Institute for Animal Health, College of Veterinary Medicine, Cornell University, Ithaca, NY 14853, USA

4 Department of Animal Sciences, College of Agricultural, Consumer and Environmental Sciences, The University of Illinois at Urbana-Champaign, Urbana, IL 61801, USA

5 Willow Creek Pet Center, Cottonwood Heights, UT 84093, USA

6 Eye Care for Animals, Salt Lake City, UT 84106, USA

7 Bovine Functional Genomics Laboratory, Agricultural Research Services, United States Department of Agriculture, Beltsville, MD 20705, USA

8 OptiGen, LLC, Ithaca, NY 14850, USA

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BMC Genetics 2013, 14:27  doi:10.1186/1471-2156-14-27

Published: 20 April 2013

Additional files

Additional file 1: Table S1:

Primer names, sequences and locations. A. Primers used to establish the breaking points of the cd mutation and the corresponding presence or absence of the PCR product in cd-affected dog. In bold are the primers flanking the deletion used to identified the sequence of the affected chromosome and identify the accurate breaking point in the DNA. B. Primers used to establish the affected haplotype linked to the mutation in a ~20 Kb interval. C. Primers used to establish the minimum LD between the affected alleles in the AM, the MAS and the Siberian husky in a 3.93 Mb interval. Table S2 Affected and normal haplotypes in the cd-locus in AM and MAS. Abbreviations: del, deletion; wt, wildtype; mut, CNGB3-deletion mutation. Table S3 Genotype results of five dogs to total eight cd-affected chromosomes from three different breeds. Boxed in red is the minimal LD, 0.913-1.45 Mb long and observed across all affected chromosomes. Highlighted in colors are the informative SNPs with different colors to each allele. Abbreviations: del, deletion; wt, wildtype; mut, CNGB3-deletion mutation.

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Open Data

Additional file 2:

Movie showing the cd-affected MAS trying to fetch a ball under day-light conditions. The dog could only find the ball by smell, not by sight.

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Open Data