Specifications
Breeds
All Breeds
Gene
FAM134B
Organ
Nervous System
specimen
Swab, Blood EDTA, Blood Heparin, Semen, Tissue
Mode of Inheritance
Autosomal Recessive
Chromosome
4
Also known as
SN
Year Published
2021
General information
Sensory neuropathy is a severe neurological disease caused by recessive mutation in the FAM134B gene. The disease causes the degeneration of sensory and nerve cells, and often results in self-mutilation of the paws.
Clinical features
Affected puppies manifest at approximately 7 months of age with ataxia (loss of coordination) in the limbs. The disease progresses to cause loss of sensation, "knuckling" of the hind paws and self-mutilation of the paws, which often necessitates surgical amputation of damaged toes.
References
Pubmed ID: 34387380
Omia ID: 2032