Neuronal Ceroid Lipofuscinosis 6 (NCL6) – Australian Shepherd
Kodas: H330
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 of the disease, known as Neuronal Ceroid Lipofuscinosis 6 (NCL6), is found in the Australian Shepherd, and is caused by a recessive mutation to the gene CLN6.
Specifications
| Breeds | |
|---|---|
| Gene | CLN6 |
| Chromosome | 30 |
| Mutation | c.829T>C |
| Organ | Sensory organs |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | NCL6 |
Clinical features
Symptoms of NCL6 include decreased vision progressing to complete blindness. Progressive neurological symptoms which have been observed are anxiety, circling behavior and loss of coordination.
References
Pubmed ID: 21234413
Year published: 2011
Omia ID: 1443
Omia variant ID:
Turnaround information
- 10 working days