Deutsch
Hrvatski
Русский
Português
Dog Narcolepsy Daschund type
| Acronym: | NARC |
| Gene: | HCRTR2 |
| Mutation: | c.160G>A |
| Inheritance: | Autosomal recessive |
| Sample type: | CHS (Cheek Swab), WBE (Whole Blood EDTA) |
Genetics and characteristics
Dog narcolepsy Daschund type is a disabling sleep disorder characterized by daytime sleepiness, sleep fragmentation, striking transitions from wakefulness into rapid eye movement (REM) sleep, and symptoms of abnormal REM sleep, such as cataplexy, sleep paralysis, and hypnagogic hallucinations. Symptoms appear suddenly, and the recovery is spontaneous as well. Sudden loss of muscle tone triggered mainly by positive emotions that share some physiological similarities with REM sleep atonia, called cataplexy is the most valuable clinical feature used to diagnose narcolepsy. Narcolepsy has been diagnosed in many breeds and has an established hereditary component. Predisposed breeds include the Labrador Retriever, Poodle, Dachshund, and Doberman Pinscher. Symptoms usually appear by 6 months of age. Small-breed dogs seem to be more severely affected.
Results Reported As
Test Result |
Interpretation of test result |
CLEAR |
Tested mutation was not detected in animal with „clear“ result. Animal tested as clear has wild-type allele in homozygous state (i.e. two pairs of healthy alleles). It will not develop disease caused by tested mutation.* It will pass only wild-type allele to its offspring. |
CARRIER |
Tested mutation was detected in animal with „carrier“ result. Animal tested as carrier has one wild-type and one mutation allele, it is in heterozygous state. It will not develop disease caused by tested mutation.* It can pass wild-type or mutation allele to its offspring. |
AFFECTED |
Tested mutation was detected in animal with „affected“ result. Animal tested as affected has two copies of mutation alleles affecting the gene. It is likely the animal will experience a genetic disorder due to this mutation.** It will pass only mutation allele to its offspring. |
*Test excludes only tested mutation but not possible unknown mutations or factors that can lead to similar condition/symptoms.
** Potential unknown mutations or multiple other factors can possibly affect the likelihood of experiencing a genetic disorder.
References:
Hungs, M., Fan, J., Lin, L., Lin, X., Maki, R.A., and Mignot, E. (2001). Identification and Functional Analysis of Mutations in the Hypocretin (Orexin) Genes of Narcoleptic Canines. Genome Res. 11, 531–539.
Lin, L., Faraco, J., Li, R., Kadotani, H., Rogers, W., Lin, X., Qiu, X., de Jong, P.J., Nishino, S., and Mignot, E. (1999). The Sleep Disorder Canine Narcolepsy Is Caused by a Mutation in the Hypocretin (Orexin) Receptor 2 Gene. Cell 98, 365–376.