2015 ACVIM Forum Research Abstract Program

Inheritance patterns of the chromosomal segments encompassing the 5 genes encoding AChR subunits were evaluated in the JRT family using microsatellite markers, and CHRNE and CHRNB1 were identified as candidates. An insertion in exon 7 of CHRNE that predicts a frameshift and premature stop codon was homozygous in both affected puppies and heterozygous in the parents. DNAs from the original 1970s JRT cases were tested and harbored the identical mutation. The mutation was not identified in 246 unaffected JRTs. Although the carrier rate is very low, the mutation has persisted in the JRT population for over 40 years. Loss of deep pain perception in dogs with type 1 disc disease is thought to represent functional spinal cord transection with a poor prognosis for recovery to ambulation. Previous studies have reported outcome ranges from 0% to 76%, however there are few known variables that determine which of these patients will ultimately recover.