01006-A: A DNA Marker for an Autosomal Recessive, Lethal, Neurological Disease of Gordon Setter Puppies

Grant Status: Closed

Grant Amount: $11,896.88
Dr. Dennis P. O'Brien, DVM PhD, University of Missouri, Columbia
August 1, 2007 - July 31, 2008
Sponsor(s): American German Shepherd Dog Charitable Foundation, Inc.
Breed(s): Gordon Setter
Research Program Area: Prevention

Abstract

A distinct, early onset, fatal, neurological disease of Gordon Setter puppies, referred to as DUNGd, has been recognized by many breeders and veterinarians. Affected pups suffer progressive weakness, mental deterioration, and seizures requiring euthanasia by 5-6 weeks of age. The exact incidence of the disease is unknown, but it appears to be inherited as an autosomal recessive trait. We have recognized some characteristic changes in the metabolic assay of the urine in three puppies with this condition which suggest an inborn error of metabolism as the cause of the disease. The changes are most consistent with a mutation in one of two candidate genes. The main goal of this study is to determine if a mutation in one of these genes is responsible for this disease. If this is discovered we can develop an assay to detect the mutant gene. This can be used as a screening test to identify carriers and the gene could be decreased/eliminated from the breed.

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