1270: Hereditary Nephritis in English Cocker Spaniels

Grant Status: Closed

Grant Amount: $72,760
George E. Lees, DVM; Texas A&M University
May 30, 1996 - May 29, 1999

Sponsor(s): English Cocker Spaniel Club of America

Breed(s): English Cocker Spaniel
Research Program Area: Kidney & Urological Disease
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Project Summary

Familial 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.


Bell, R. J., Lees, G. E., & Murphy, K. E. (2008). X chromosome inactivation patterns in normal and X-linked hereditary nephropathy carrier dogs. Cytogenetic and Genome Research, 122(1), 37–40. https://doi.org/10.1159/000151314
Burkholder, W. J., Lees, G. E., LeBlanc, A. K., Slater, M. R., Bauer, J. E., Kashtan, C. E., … Hannah, S. S. (2004). Diet Modulates Proteinuria in Heterozygous Female Dogs with X-Linked Hereditary Nephropathy. Journal of Veterinary Internal Medicine, 18, 165–175. Retrieved from https://www.ncbi.nlm.nih.gov/pubmed/15058767
Cox, M. L., Lees, G. E., Kashtan, C. E., & Murphy, K. E. (2003). Genetic cause of X-linked Alport syndrome in a family of domestic dogs. Mammalian Genome, 14(6), 396–403. https://doi.org/10.1007/s00335-002-2253-9
Cox, M., Quignon, P., Galibert, F., Lees, G., & E. Murphy, K. (2009). Sequencing and Radiation Hybrid Mapping of Canine Uromodulin. DNA Sequence, 14, 61–69. https://doi.org/10.1080/1042517021000056943
Davidson, A. G., Bell, R. J., Lees, G. E., Kashtan, C. E., Davidson, G. S., & Murphy, K. E. (2007). Genetic Cause of Autosomal Recessive Hereditary Nephropathy in the English Cocker Spaniel. Journal of Veterinary Internal Medicine, 21, 394–401. Retrieved from https://doi.org/10.1111/j.1939-1676.2007.tb02981.x
Greer, K. A., Higgins, M. A., Cox, M. L., Ryan, T. P., Berridge, B. R., Kashtan, C. E., … Murphy, K. E. (2006). Gene expression analysis in a canine model of X-linked Alport syndrome. Mammalian Genome, 17(9), 976–990. https://doi.org/10.1007/s00335-005-0179-8
Kashtan, C. E., Kim, Y., Lees, G. E., Thorner, P. S., Virtanen, I., & Miner, J. H. (2001). Abnormal Glomerular Basement Membrane Laminins in Murine, Canine, and Human Alport Syndrome. Journal of the American Society of Nephrology, 12(2), 252–260. Retrieved from https://www.ncbi.nlm.nih.gov/pubmed/11158215
Lees, G. E., Helman, R. G., Kashtan, C. E., Michael, A. F., Homco, L. D., Millichamp, N. J., … Kim, Y. (1999). New form of X-linked dominant hereditary nephritis in dogs. American Journal of Veterinary Research, 60(3), 373–383. Retrieved from https://www.ncbi.nlm.nih.gov/pubmed/10188823
Lees, George E. (1996). Congenital Renal Diseases. Veterinary Clinics of North America: Small Animal Practice, 26(6), 1379–1399. https://doi.org/10.1016/S0195-5616(96)50133-6
Lees, George E. (2004). Early diagnosis of renal disease and renal failure. Veterinary Clinics of North America: Small Animal Practice, 34(4), 867–885. https://doi.org/10.1016/j.cvsm.2004.03.004
Lees, George E., Helman, R. G., Kashtan, C. E., Michael, A. F., Homco, L. D., Millichamp, N. J., … Kim, Y. (1998). A model of autosomal recessive Alport syndrome in English cocker spaniel dogs. Kidney International, 54(3), 706–719. https://doi.org/10.1046/j.1523-1755.1998.00062.x
Lees, George E., Kashtan, C. E., Michael, A. F., Helman, R. G., Naito, I., Ninomiya, Y., … Kim, Y. (2000). Expression of the α6 chain of type IV collagen in glomerular basement membranes of healthy adult dogs. American Journal of Veterinary Research, 61(1), 38–41. https://doi.org/10.2460/ajvr.2000.61.38

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