Cerebellar Hypoplasia (CH) – White Swiss Shepherd
Kodas: H992
Short description
Cerebellar Hypoplasia (CH) is a severe developmental disorder in which the cerebellum (part of the hindbrain) fails to properly develop.
General information
Cerebellar Hypoplasia (CH) is a severe developmental disorder in which the cerebellum (part of the hindbrain) fails to properly develop. In the White Swiss Shepherd, a variant of the disorder that includes lissencephaly (development of a smooth brain) is caused by a mutation to the gene RELN, which is probable autosomal recessive.
Specifications
| Breeds | |
|---|---|
| Gene | RELN |
| Chromosome | 18 |
| Mutation | c.2839delG |
| Organ | Nervous System |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | CH |
Clinical features
Affected puppies fail to properly gain weight and begin developing progressive ataxia (loss of coordination) at an age of around 2 weeks. They have difficulty standing and walking straight, as well as difficulty nursing. The disorder is severe, and euthanasia is likely necessary within the first month of life.
References
Pubmed ID: 37334487
Year published: 2023
Omia ID: 1867
Omia variant ID:
Turnaround information
- 10 working days