Factor VII (FVII) Deficiency

Factor VII is a clotting factor synthesized in the liver that is necessary to initiate blood coagulation when vascular injury occurs. Factor VII deficiency is a mild to moderate inherited blood clotting disorder present in Beagle, Airedale, Alaskan Klee Kai, Giant Schnauzer and Scottish Deerhound breeds. It is inherited as an autosomal recessive, thus both females and males can be affected if they carry 2 copies of the defective gene but animals with only 1 copy are not affected.

Imerslund-Gräsbeck Syndrome (IGS)

Imerslund-Gräsbeck syndrome (IGS) is a disorder found in Beagles and Border Collieswhere dietary cobalamin (vitamin B12) is unable to be absorbed through the gut. Both breeds have independent mutations in the cubulin (CUBN) gene. The disease has an autosomal recessive mode of inheritance with both sexes being equally affected. Owners of IGS affected dogs often note a lack of appetite, failure to gain weight, lethargy and malaise that intensifies after eating. Clinically, anemia and excess urine protein is observed. Without chronic treatment, permanent brain and nervous system damage can occur. Dogs with one normal and one mutated IGS gene, carriers, are unaffected but breeding two carriers together would be predicted to produce 25% affected offspring and 50% carriers.

Musladin-Lueke Syndrome (MLS)

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.

Neonatal Cerebellar Cortical Degeneration (NCCD)

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.

Primary Open Angle Glaucoma (POAG)

Primary Open Angle Glaucoma (POAG) in the Beagle breed is an autosomal recessive disorder resulting from a mutation in the gene ADAMTS10. The mutation causes pressure in the eye to increase and, if untreated, nerve damage, vision loss, lens subluxation and blindness may result. Both sexes are equally affected and carriers for the mutation do not exhibit any effects. The mutation has an estimated frequency of 1% in the Beagle population.

Pyruvate kinase deficiency (PKDef)

Pyruvate kinase deficiency (PKDef) is an inherited hemolytic anemia caused by a defect in the enzyme pyruvate kinase.  Loss of function of this enzyme results in premature death of red blood cells. Affected dogs do not have sufficient quantities of red blood cells to adequately supply the body with oxygen.  Observable signs in affected dogs may include lack of energy, low exercise tolerance and fatigue in dogs that appear otherwise fit. Clinically, dogs with PKDef present with a severe anemia, increased iron levels, increased bone density, may have an enlarged spleen and liver as well as fibrous connective tissue replacement of bone marrow cells. Bone marrow and liver failure typically occur by 5 years of age. The disease is inherited as an autosomal recessive disorder thus both sexes are equally affected and two copies of the defective gene must be present for dogs to be affected. Carrier dogs, those with one defective and one normal copy, show no signs but have half the normal level of pyruvate kinase activity. Breeding two carriers is expected to produce 25% affected offspring and 50% carriers of the disease.


The Beagle Club of QLD
Beagle…It’s not just a dog – it’s an adventure! Monthly social events, walks, lurecoursing, conformation showing and Christmas parties!

Dogs Queensland
Dogs Queensland strives to maintain and improve the standard, breeding and exhibition of pure bred registered dogs and works with members and affiliate clubs to help create direction, raise awareness of industry issues and improve industry standards.

Welcome , today is Thursday, June 29, 2017