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Myelin is a fat-rich compound that surrounds the axon of certain nerve cells and thus enables faster propagation of action potentials via a saltatory conduction.
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Specifications
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Year Published |
General information
Myelin is a fat-rich compound that surrounds the axon of certain nerve cells and thus enables faster propagation of action potentials via a saltatory conduction. Insufficient myelin (known as hypomyelination) disrupts this process, leading to neurological symptoms.
The variant of the disorder analysed in this test is found in the Weimaraner, and is caused by a recessive mutation to the gene FNIP2.
Clinical features
Clinical signs were first observed between 12 and 14 days of age. The affected pups were able to walk, but showed a "hopping" gait in the hind limbs.
Additional information
References
Pubmed ID: 24272703
Omia ID: 526
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