01536-A: Identification of the Gene Associated with Hypomyelination and Tremors in the Weimaraner

Grant Status: Closed

Grant Amount: $11,742.46
Pragna I Patel, PhD; University of Southern California
June 1, 2011 - March 31, 2012

Sponsor(s): Australian Terrier Club of America, Border Terrier Club of America, Collie Health Foundation, English Springer Spaniel Field Trial Association, Leonberger Health Foundation, Tibetan Terrier Club of America/Tibetan Terrier Health & Welfare Foundation

Breed(s): Weimaraner
Research Program Area: Neurology
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This research project aims to identify the gene and mutation responsible for a tremor syndrome which is inherited as an autosomal recessive disorder in the Weimaraner breed. Affected dogs develop a severe tremor at 10-12 days of age which gradually diminishes with time so that by 4-5 months, the tremor is no longer seen in most dogs. At the height of disease, affected dogs have a unique disturbance in myelination, which is most obvious in the spinal cord where the external aspects of the ventral and lateral columns are severely dysmyelinated. The tremor is worst at around 6 - 8 weeks of age. While many dogs appear to recover some remain with a persistent tremor. Using DNA from 48 affected, unaffected and known carrier animals, the investigators have conducted a genome-wide association and homozygosity mapping study and mapped the mutation to an approximately 3.75 Mb interval. With this research, they will conduct next-generation DNA sequencing on the genes within this interval in order to identify the disease-associated mutation. Successful identification of the gene and mutation will produce a bench-based test for detection of carriers of the mutation that could be used to identify carriers and help the breeder reduce the incidence of the disease and could eventually eradicate the disease.


None at this time.

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