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Sensory Neuropathy H695

79,00 € each

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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