UC Davis School of Veterinary Medicine Veterinary Genetics Laboratory

Alaskan Malamute Genetic Tests

Tests Offered:
Alaskan Malamute Polyneuropathy | Cone Degeneration

Alaskan Malamute Polyneuropathy

Introduction

Alaskan Malamute Polyneuropathy (AMPN) is an inherited neuromuscular defect whose signs can include exercise intolerance, change in bark, noisy breathing, muscle atrophy and progressive gait abnormalities of hind legs. Signs of the disease appear between 3-19 months of age and can range from mild to severe. Affected dogs may have difficulty standing and walking up stairs.

AMPN is caused by a mutation in the gene N-myc downstream-regulated gene (NDRG1). It is inherited as an autosomal recessive, thus both females and males can be affected if they carry 2 copies of the defective gene.  Animals with 1 copy are not affected but are carriers. Breeding two carriers together is predicted to produce 25% affected offspring and 50% carriers of the disease.

The VGL offers a DNA test for AMPN to assist owners and breeders in identifying affected and carrier dogs. The test is specific for the mutation present in Alaskan Malamutes. 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.

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

Results reported as:

N/N Normal - no copies of AMPN mutation.
N/AMP Carrier- 1 copy of AMPN mutation; dog is normal. Breedings between carriers are expected to produce 25% affected puppies.
AMP/AMP Affected - 2 copies of AMPN mutation.

This test is specific for the AMPN mutation described in Alaskan Malamutes.

Reference:

Bruun CS, KH Jäderlund, M Berendt et al. 2013. A Gly98Val mutation in the N-Myc downstream regulated gene 1 (NDRG1) in Alaskan Malamutes with Polyneuropathy. PLoS ONE 8(2): e54547. doi:10.1371/journal.pone.0054547.

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 No copies of CNGB3 mutation; dog is normal.
N/CD1 1 copy of CNGB3 mutation; dog is normal but is a carrier.
N/CD2 1 copy of CNGB3 mutation; dog is normal but is a carrier.
CD1/CD2 2 copies of CNGB3 mutations; dog has day-blindness.
CD1/CD1 2 copies of CNGB3 mutations; dog has day-blindness.
CD2/CD2 2 copies of CNGB3 mutations; dog has 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