Neuronal Ceroid Lipofuscinosis 5 (NCL5) – Golden Retriever
Kodas: H380
Short description
Neuronal Ceroid Lipofuscinosis (NCL) is the name referring to a wide array of degenerative neurological conditions which cause progressive nerve damage, resulting in a loss of mobility and vision, and ultimately death.
General information
Neuronal Ceroid Lipofuscinosis (NCL) is the name referring to a wide array of degenerative neurological conditions which cause progressive nerve damage, resulting in a loss of mobility and vision, and ultimately death. This variant, occurring in the Golden Retriever, is the result of a recessive mutation to the CLN5 gene. A similar mutation also occurs in the Australian Cattle Dog and Border Collie.
Specifications
| Breeds | |
|---|---|
| Gene | CLN5 |
| Chromosome | 22 |
| Mutation | c.934_935del |
| Organ | Nervous System |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | NCL5 |
Clinical features
Onset of NCL in the Golden Retriever occurs at about 15 months of age. Symptoms include ataxia (loss of coordination), anxiety, pacing/circling, tremors, aggression, visual impairment and seizures.
References
Pubmed ID: 25934231
Year published: 2015
Omia ID: 1482
Omia variant ID:
Turnaround information
- 10 working days