Genetic Diseases of Beagles |
Pyruvate Kinase Deficiency [PK]PK is a haemolytic anaemia that results from a deficieny of the essential red blood cell enzyme, Pyruvate Kinase. Pyruvate kinase converts glucose to energy when oxygen is low in the body. If there is a deficiency of the enzyme, the red blood cells break down more rapidly than usual, resulting in too few oxygen- carrying blood cells. In late stages of the disease the bone marrow becomes exhausted and scarred, at this point the anaemia is lethal and the affected dog will die. Dogs with PK deficiency usually show signs by 4 -12 months of age . Sadly, affected dogs do not usually live past 4 -5 yrs of age due to bone marrow and /or liver failure. Symptoms include slow growth,pale gums and whites of eyes,fatigue,legarthy, weakness and intolerance to exercise. Unfortunately there is no cure for the disease and affected dogs generally do not live past 5 years. There is a DNA test available that can determine a breeding dog's status. PK is an autosomal recessive disease, meaning the disease will only be expressed when 2 copies of the recessive gene variant are present. A dog with 2 copies of the recessive gene variant is AFFECTED and they will present with symptoms of the disease. If bred, they will pass a copy of the gene variant to their offspring 100% of the time. A dog with 1 copy of the recessive gene variant is a CARRIER and they will never present with symptoms. However, they will pass the gene variant to their offspring 50% of the time. A dog that does not have any copies of the recessive gene variant is CLEAR and will NEVER produce AFFECTED offspring. |
PLEASE NOTEALL of my beagles have been DNA tested for PK and they are all CLEAR. This means all of their offspring will be CLEAR by PARENTAGE. |
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Cherry EyeCherry Eye in beagles appears as a small red bump which protrudes above the third eyelid and which is located in the corner of the eye nearest the nose. Cherry Eye is actually caused by a prolapse of the nictitans gland, which is a gland normally found on the inside of the third eyelid of the dog and is normally not visible.The exact cause of cherry eye in dogs is poorly understood. It has been proposed that a weak attachment between the nictitans gland and the tissue to which it is normally anchored is responsible. Treatment of cherry eye in the dog is surgical and involves replacing the nictitans gland into its original position. In past years, the nictitans gland was frequently removed in cases of cherry eye. However, this technique can result in insufficient tear production and the development of keratoconjunctivitis sicca [KCS or “dry eye”] later in life. Though cherry eye is considered to be an inherited condition, the part of the condition which is actually inherited is the CONFORMATION that predisposes to cherry eye. The mode of inheritance is not fully understood and breeders are encouraged to select at least one in their breeding pairs in which cherry eye is not predisposed. |
PLEASE NOTEThere has been no instance of cherry eye in my breeding beagles. However, should one of my puppies ever present with cherry eye, as the breeder, I will finance all veterinary costs for the repair of the condition. |
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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. The mutation has been idntified by Dr. Mark Neff at the Veterinary Genetics Laboratory, School of Veterinary Medicine, UC, Davis, USA. Research is ongoing and there are still aspects of this disease that are continuing to be investigated such as the geographical 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. The 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 DEFINITE diagnosis for these dogs, but there is currently no established therapeutic intervention. RESULTS REPORTED AS: N/N : NORMAL. The dog does not have the MLS gene. If a carrier dog 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 from this mating 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 to be tested PLEASE NOTE: All of my beagles have been DNA tested for MLS and are all CLEAR |
Factor VII DeficiencyWhat is Factor VII Deficiency in dogs?Factor VII Deficiency (FVII) is a bleeding disorder in dogs that is inherited in an autosomal recessive pattern. As the name suggests, dogs affected by this condition are deficient in the production of Factor VII. This blood protein is an essential part of the blood coagulation process. Like the relatively similar, but much more severe blood disorder haemophilia, Factor VII Deficient dogs may bleed heavily after injury as well as after even minor surgery. Often, most affected dog owners will be completely unaware that their dog is affected until their dog undergoes their first surgical procedure such as desexing (speying/neutering). Genetics of Factor VII Deficiency in dogsA point mutation on the F7 gene is responsible for Factor VII Deficiency in dogs, however if the dog carries only one copy of the mutated gene, it will not develop the disease. This is due to the autosomal recessive nature of the mutated gene. As long as one parent is clear of Factor VII Deficiency (ie. Two normal copies), none of the puppies that dog whelps or sires will be affected by the disease. What is the severity of Factor VII Deficiency?Factor VII Deficiency has a medium level of severity when compared to other genetic diseases. If affected dogs can be identified before they have surgery they can be managed quite well. Unidentified dogs however can present a problem for veterinarians not ready to stem a higher than normal level of bleeding by the affected dog during surgery. Most dogs with Factor VII Deficiency will still have a normal lifespan when compared to other dogs of the same breed. What are the symptoms of Factor VII Deficiency in dogs?The main symptom of dogs affected by Factor VII Deficiency is uncontrolled bleeding due to poor clotting times but there are other symptoms that are quite common in these dogs. They may bruise easily during rough play or after relatively minor injuries and unexplained nose bleeds may happen from time to time. Reports of dogs affected by Factor VII Deficiency having swollen glands around their neck have surfaced but the significance of these have yet to be determined. Diagnosis of Factor VII DeficiencyDiagnosis of Factor VII Deficiency is usually made unexpectedly during surgery when there is uncontrolled bleeding. However a DNA Disease Screen will confirm definitively if a dog has Factor VII Deficiency as well as whether that dog is a carrier or if he is clear of mutated F7 genes. Treatment of dogs with Factor VII DeficiencyDogs with Factor VII Deficiency are not really treated, but are managed to avoid the risks associated with an uncontrolled bleed such as making sure there is extra blood banked in case the bleeding during surgery is excessive. Affected dogs are also often prevented from engaging in risky activities that may also lead to significant injuries to again prevent unnecessary risks to the dog. PLEASE NOTE: all of my beagles have been DNA tested for F7 Deficiency and status is shown on each dog's page. |
Imerslund-Grasbeck Syndrome (IGS) or intestinal malabsorption of Cobalamin (Cbl)IGS or vitamin B12 (Cobalamin, Cbl) malabsorption is a recessively inherited condition. In Beagles, affected puppies generally show obvious clinical signs by three months of age. They are born with B12 reserves in their liver but once the supply is used up, affected dogs are unable to absorb B12. Symptoms include poor coat, weight loss due to anorexia and legarthy. Affected animals respond well to treatment with parenteral cobalamin if they are treated soon enough but this is an ongoing treatment. PLEASE NOTE: All of my beagles are DNA tested for B 12 Deficiency and are all CLEAR |
