Beagle Genetic Tests

Musladin-Lueke Syndrome

Introduction

Musladin-Lueke Syndrome (MLS) is a genetic disease of the Beagle that affects the development and structure of connective tissue. It is multi-systemic, with involvement of multiple organs, including bone, heart, skin, and muscle. MLS is inherited as a recessive trait. Current evidence suggests that dogs that have two copies of the mutant gene are affected with MLS, though the severity of clinical signs can be variable. Dogs inheriting only one copy of the mutant gene can show subtle signs but do not appear to have health-related defects. To the best available knowledge, carriers cannot be identified based on their appearance.

The disorder stems from a single mutation that has been inherited through common descent, such that all affected Beagles share the gene from a common ancestor, perhaps dating back to the foundation stock of the breed. This mutation has been identified by Dr. Mark Neff at the Veterinary Genetics Laboratory, School of Veterinary Medicine, UC Davis.

Research is ongoing and there are still aspects of this disease that are continuing to be investigated such as the geographic distribution of the mutation among purebred Beagle bloodlines, and the variable nature of the disease.

A DNA test for the mutation causing MLS in Beagles is now available through the Veterinary Genetics Laboratory. This test determines whether dogs are normal (clear of the mutation), carrier (have one mutant copy), and affected (have two mutant copies).Dogs that carry two copies of the mutation are susceptible to several health-related consequences. The DNA test can provide a definitive diagnosis for these dogs, but there currently is no established therapeutic intervention.

ORDER TEST KITS - Allow 2-6 business days for test results.

 

Results reported as:

N/N	Normal, the dog does not have the MLS gene
N/MLS	Carrier, the dog carries one copy of the MLS gene.
MLS/MLS	Affected, the dog has two copies of the MLS gene.

 

If a carrier dog (with a single mutant copy of the gene) is used in a mating, an offspring from the cross has a 50% chance of inheriting the mutation from this parent. If two carriers are mated, 25% of the offspring in the litter are expected to have MLS and another 50% of the puppies are expected to be carriers. Mating two clear dogs will only produce clear puppies, which need not be tested by DNA.

Genetic Knowledge of Beagle MLS

The DNA test for Musladin-Lueke Syndrome status is meant to equip owners, breeders, and clinicians with useful information that can be applied in several ways to improve the health of their dogs. It allows owners to establish the MLS-status of their pet and veterinarians to positively diagnose the disease in patients that show MLS-like signs. Test results can be used by breeders to assess potential breeding stock and make fully informed decisions in the choice of mating pairs.The genetic knowledge gained from the test holds promise for eliminating the production of affected dogs in the near-term, and for eliminating the gene defect from the gene pool over time. Submitting a sample for DNA testing is simple. Cheek swabs can be non-invasively collected from a dog in just a few minutes. Samples can be submitted by regular mail.

Reference:

Bader HL, AL Ruhe, LW Wang et al.  An ADAMTSL2 Founder Mutation Causes Musladin-Lueke Syndrome, a Heritable Disorder of Beagle Dogs, Featuring Stiff Skin and Joint Contractures. Plos One 2010, 5(9):e12817.

Neonatal Cerebellar Cortical Degeneration (NCCD)

Introduction

Inherited neurological degenerative diseases are found in several mammalian species including humans, horses and dogs. Cerebellar cortical degeneration, also called cerebellar abiotrophy, is a disease characterized by ataxia (lack of coordination), broad based stance, loss of balance and intentional tremors. In different breeds of dogs, the onset is variable from neonatal to adult. In Beagles the condition is neonatal and onset is noticed at about 3 weeks of age as puppies begin to walk. The severity of the condition is variable among individuals but progression of clinical signs is minimal. Research identified an 8bp deletion in the Beta III Spectrin Gene (SPTBN2) associated with NCCD in Beagles.

NCCD is inherited as a recessive disease, thus both parents must carry the mutation in order to produce an affected puppy. The VGL offers a test for NCCD in Beagles to assist breeders to identify carriers and affected dogs.

ORDER TEST KITS - Allow 5-10 business days for test results.

Results reported as:

N/N	Normal, no copies of the NCCD mutation are present.
N/CCD	Carrier, 1 copy of the NCCD mutation is present. Breedings between carriers are expected to produce 25% affected, 50% carrier and 25% clear offspring.
CCD/CCD	Affected, animal has 2 copies of the NCCD mutation and is expected to have the disease.

This test is specific for the 8bp deletion in the SPTBN2 associated with NCCD in Beagles.

Reference:

Forman OP, De Risio L, Stewart J, Mellersh CS, Beltran E (2012) Genome-wide mRNA sequencing of a single canine cerebellar cortical degeneration case leads to the identification of a disease associated SPTBN2 mutation. BMC Genetics 13:55.