Congenital Mirror Movement Disorder 1 (CMM1, EFNB3-related)
Kodas: H274
Short description
Congenital Mirror Movement Disorder 1 (CMM1) is an autosomal recessive movement disorder that affects the Weimaraner breed.
General information
Congenital Mirror Movement Disorder 1 (CMM1) is an autosomal recessive movement disorder that affects the Weimaraner breed. In dogs with CMM1, nerve pathways in the spinal cord switch sides. This alteration prevents affected dogs from controlling each hind leg independently, leading to the characteristic bunny hopping gait. This gait might be occasionally observed in the front legs as well, though the primary focus is on the hind legs. The disorder is caused by a mutation in the EFNB3 gene that results in spinal cord malformations during embryonic development.
Specifications
| Breeds | |
|---|---|
| Gene | EFNB3 |
| Chromosome | 5 |
| Mutation | c.643_644dup |
| Organ | Nervous System |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | BHS1; CMM1 |
Clinical features
This condition is characterized by a unique movement pattern, where the hind legs move simultaneously in a hopping motion, resembling that of a bunny. Other symptoms include rear leg weakness and lack of coordination, while the front legs remain coordinated and strong.
The condition of CMM1-affected puppies does not improve over time. Consequently, euthanasia is often considered on human grounds for affected individuals.
Additional information
This test was previously named Bunny Hopping Syndrome 1 (BHS1, EFNB3-related)
References
Pubmed ID: 40401490
Year published: 2025
Omia ID: 2353
Omia variant ID:
Turnaround information
- 10 working days