1270: Hereditary Nephritis in English Cocker Spaniels
Grant Status: Closed
Project SummaryFamilial nephropathy is an autosomal recessive kidney disease that affects English Cocker Spaniels. This research has discovered the fundamental cause of the disease at the protein level, and identified two specific genes in which the mutation responsible for the disease will likely be found. Over 75 percent of the genes have been sequenced. Once the mutation is found, a DNA test to identify carriers will be possible. In addition to the genetic work, the researchers defined criteria for a definitive diagnosis of familial nephropathy; these criteria are now considered the standard for diagnosing the condition worldwide. Clinical studies have also demonstrated the utility of testing urine specimens of at-risk English Cocker Spaniels as a readily available aid in early diagnosis of familial nephropathy. An accurate diagnosis helps breeders identify carriers in their breeding lines.
Publication(s)- Bell RJ, Lees GE, Murphy KE. X chromosome inactivation patterns in normal and X-linked hereditary nephropathy carrier dogs. Cytogenet Genome Res. 2008;122(1):37-40. Epub 2008 Oct 14. - Lees GE. Congenital renal diseases. Vet Clin North Am Small Ani
Help Future Generations of Dogs
Participate in canine health research by providing samples or by enrolling in a clinical trial. Samples are needed from healthy dogs and dogs affected by specific diseases.