Affected gene: HCRTR2 (Hypocretin receptor 2 / Orexin receptor 2)
 Inheritance: Autosomal recessive
 Mutation: 226 bp insertion in the hypocretin receptor 2 gene (HCRTR2: c.647-35ins226)
 OMIA link: 000703
 Breeds appropriate for testing: Doberman Pinscher
Symptoms:
Narcolepsy in Doberman Pinschers is characterized by the inability to remain awake or active for extended periods of time, particularly after stimulation.
References:
Lin, L., Faraco, J., Li, R., Kadotani, H., Rogers, W., Lin, X., Qiu, X., de Jong, P.J., Nishino, S., & Mignot, E. (1999). The sleep disorder canine narcolepsy is caused by a mutation in the hypocretin (orexin) receptor 2 gene. Cell, 98(3), 365-376. doi: 10.1016/s0092-8674(00)81965-0
Hungs, M., Fan, J., Lin, L., Lin, X., Maki, R.A., & Mignot, E. (2001). Identification and functional analysis of mutations in the hypocretin (orexin) genes of narcoleptic canines. Genome Research, 11(4), 531-539. doi: 10.1101/gr.gr-1610r