UC Davis School of Veterinary Medicine Veterinary Genetics Laboratory
SERVICES

Alaskan Husky Genetic Tests

Tests Offered:
Alaskan Husky Encephalopathy | Cone Degeneration

Alaskan Husky Encephalopathy

Introduction

Alaskan Husky Encephalopathy (AHE) is a brain disease affecting Alaskan Husky (AH) dogs. The disease usually affects juvenile and young adult males and females, and often multiple dogs from the same litter. The disease is eventually fatal, although some dogs may live for months to years before the signs progress. Signs of AHE include seizures, trouble walking, a high stepping gait, trouble eating, and visual problems. AHE is inherited as a simple autosomal recessive trait. The disease potentially can occur in any breed, but is most commonly found in the Alaskan Husky. A DNA test for the specific AHE mutation is now available that can determine if dogs are normal, or if they carry one or two copies of the defective gene. Dogs that carry two copies of the mutation are affected and expected to develop neurological problems.

The VGL offers a DNA test for AHE to assist owners and breeders in identifying affected and carrier dogs. The test uses DNA collected from buccal (cheek) swabs, thus avoiding blood sample collection. Breeders can use results from the test as a tool for selection of mating pairs to avoid producing affected dogs.

Female

Male

N/N

N/AHE

AHE/AHE

N/N

100% N/N

50% N/N, 50% N/AHE

100% N/AHE

N/AHE

50% N/N, 50% N/AHE

25% N/N, 50% N/AHE, 25% AHE/AHE

50% N/AHE, 50% AHE/AHE

AHE/AHE

100% N/AHE

50% N/AHE, 50% AHE/AHE

100% AHE/AHE

ORDER TEST KITS | PRICE LIST
Allow 2-6 business days for results.

Results reported as:

N/N: no copies of AHE mutation; dog is normal
N/AHE: 1 copy of AHE mutation; dog is normal but is a carrier
AHE/AHE: 2 copies of AHE mutation; dog is affected. Age of onset of neurological problems is variable.

Research on AHE is ongoing in Dr. Danika Bannasch’s laboratory at UC Davis to identify other breeds with this problem. If the dog has the mutation then treatment modalities may be used to treat the dog.

References

Brenner, O., et al., Alaskan Husky encephalopathy--a canine neurodegenerative disorder resembling subacute necrotizing encephalomyelopathy (Leigh syndrome). Acta Neuropathol (Berl), 2000. 100(1): p. 50-62.

Wakshlag, J.J., et al., Subacute necrotising encephalopathy in an Alaskan husky. J Small Anim Pract, 1999. 40(12): p. 585-9.

Vernau KM, JA Runstadler, EA Brown et al. 2013. Genome-Wide Association Analysis Identifies a Mutation in the Thiamine Transporter 2 (SLC19A3) Gene Associated with Alaskan Husky Encephalopathy. Plos One 8(3):e57195.

Cone Degeneration

Introduction

One form of canine day-blindness known as Cone Degeneration (CD) or CNGB3-achromatopsia results from the deletion of a 400,000 bases long genomic segment that includes the CNGB3 gene. The loss of CNGB3, a key component for normal vision, causes loss of function of the cones in the eye that can only be confirmed by electroretinography. Ophthalmic exams of affected dogs are not informative as results remain normal. This disease is inherited in an autosomal recessive fashion with both sexes being equally affected. The loss of cone function results in day-blindness and decreased visual acuity, with signs of the defect appearing between 8 and 12 weeks when retinal development is completed in dogs. Typically, affected dogs become increasingly photophobic as exposure to bright light is irritating and painful. Vision in low light conditions remains normal. Dogs with one normal and one deleted gene have normal vision.

The VGL offers a DNA test for the CNGB3 cone degeneration mutation that affects the Alaskan Malamute, Miniature Australian Shepherd, Siberian Husky and Alaskan Sled dogs breeds. Australian Shepherds may also be at risk. Genetic testing is recommended for all of these breeds.

ORDER TEST KITS | PRICE LIST
Allow 2-6 business days for results.

Results reported as:

N/N Normal - no copies of CNGB3 deletion.
N/CD Carrier - 1 copy of the CNBG3 deletion; dog is normal.
CD/CD Affected - 2 copies of the CNGB3 deletion; dog will have day-blindness.

Reference:

Yeh CY, Goldstein O, Kukekova AV, Holley D, Knollinger AM, Huson HJ, Pearce-Kelling SE, Acland GM, Komáromy AM. 2013. Genomic deletion of CNGB3 is identical by descent in multiple canine breeds and causes achromatopsia. BMC Genetics. Apr 20;14(1):27.

 
Veterinary Genetics Laboratory, Tel 530-752-2211, Email VGL