Breeds Affected: Weimeraner
Samples Accepted: Blood, Buccal Swabs
Disease Information: Hypomyelination, or “Shaking puppy Syndrome” disorder can be noted as early as 2 weeks of age, when tremors can be seen in affected pups. The tremors usually fade away over time, but sometimes can still be seen in mild form in adulthood. Affected dogs can usually live normal, active lives.
Inheritance Information: Hypomyelination is autosomal recessive, meaning that animals with two copies of this allele will be affected. Animals with one copy of the gene will be clinically-normal carriers.
The possible genotypes are:
N/N The dog is normal, and cannot produce affected offspring.
N/h The dog is a carrier, and can pass the allele on to approximately 50% of any offspring. If bred to another N/h carrier, approximately 25% of the offspring will be normal, 50% will be carriers, and 25% will be affected.
h/h The dog is affected, and if bred to a normal animal, 100% of the offspring will be carriers. If bred to an N/h carrier, 50% of the offspring will be carriers and 50% will be affected.
– Carriers may be bred to normal animals (N/h x N/N) without any risk of producing affected offspring. The offspring should be tested before breeding to determine if they are carriers or normal.
– Breeding two carriers (N/h x N/h) is not recommended due to the possibility of 25% of the offspring being affected.
– Affected animals (h/h) should not be used for breeding.
Test Information: This test identifies a single base deletion in exon 9 of the FNIP2 gene.
Pemberton, T.J., Choi, S., Mayer, J.A., Li, F.Y., Gokey, N., Svaren, J., Safra, N., Bannasch, D.L., Sullivan, K., Breuhaus, B., Patel, P.I., Duncan, I.D.: A mutation in the canine gene encoding folliculin-interacting protein 2 (FNIP2) associated with a unique disruption in spinal cord myelination. Glia 62:39-51, 2014. Pubmed reference: 24272703. DOI: 10.1002/glia.22582
Further information is available at the Online Mendelian Inheritance in Animals website.