Neurological defects with dilute coat colour
Kodas: H716
Short description
Dilute Coat Colour with Neurological Defects is a severe neurological disorder found in the Miniature Dachshund, resulting muscle weakness and lack of coordination as well as pale fur.
General information
Dilute Coat Colour with Neurological Defects is a severe neurological disorder found in the Miniature Dachshund, resulting muscle weakness and lack of coordination as well as pale fur. It is caused by a recessive mutation to the gene MYO5A.
Specifications
| Breeds | |
|---|---|
| Gene | MYO5A |
| Chromosome | 30 |
| Mutation | c.4973_4974insA |
| Organ | Nervous System |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
Clinical features
Affected puppies are born with a visibly dilute coat colour. Within the first weeks of age, they will present with neurological symptoms: an inability to keep the head upright or to lie down normally (instead falling over onto one side), and decreased response to environmental stimuli. The severity of the symptoms typically necessitates euthanasia on humane grounds.
References
Pubmed ID: 34680875
Year published: 2021
Omia ID: 1501
Omia variant ID:
Turnaround information
- 10 working days