Hereditary Ataxia (HACE-related) – Norwegian Elkhound
Kodas: H975
Short description
Dogs of the Norwegian Elkhound Black breed are known to suffer from cases of hereditary ataxia, a severe neurological disorder that causes a loss of coordination of voluntary movements.
General information
Dogs of the Norwegian Elkhound Black breed are known to suffer from cases of hereditary ataxia, a severe neurological disorder that causes a loss of coordination of voluntary movements. The disease is caused by a recessive mutation to the gene HACE1.
Specifications
| Breeds | |
|---|---|
| Gene | HACE1 |
| Chromosome | 12 |
| Mutation | c.1001delG |
| Organ | Nervous System |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
Clinical features
Affected puppies start presenting at approximately 4 weeks of age with abnormal, unsteady gait and easily-slipping hind legs, as well as a drooping tail. The disease is progressive, and euthanasia is likely necessary due to poor quality of life.
References
Pubmed ID: 35061740
Year published: 2022
Omia ID: 2522
Omia variant ID:
Turnaround information
- 10 working days