Tag archives: dog genetics

Canine Genetics in Practice- Congenital and Early-onset Inherited Diseases

Canine Genetics in Practice- Congenital and Early-onset Inherited Diseases

Some of the most emotionally challenging canine cases seen in the veterinary hospital are those involving serious illnesses of newborns or young puppies. Owners’ joyous expectations of a long, healthy relationship with their new puppy makes a disease which decreases that puppy’s quality of life or results in early euthanasia, all the more heartbreaking. Though infectious diseases like parvovirus are often of particular concern in young pups, some puppies ending up on the exam room table show signs of one of a wide array of inherited diseases caused by a known genetic mutation. Unfortunately, limitations in available therapies for many inherited diseases often lead to frustrating and emotional outcomes for all the parties involved; veterinarians and veterinary staff included. Thereby, making prevention of inherited disease through the use genetic testing, an essential part of healthy dog breeding.

Historically, methods to prevent inherited diseases have been limited to selective breeding practices. However, an inability to identify asymptomatic carriers of recessively inherited diseases or dogs in the preclinical phase of late-onset inherited diseases, have traditionally made great reductions in disease incidence difficult to obtain through selective breeding alone. Genetic testing is now playing an important role in identifying these dogs such that ...

Canine Genetics In Practice- A Veterinarian’s Role in Preventing Adult-onset Inherited Disease

Canine Genetics In Practice- A Veterinarian’s Role in Preventing Adult-onset Inherited Disease

Veterinarians examine, treat, and diagnose dogs with inherited diseases daily. Though treatments to fix some inherited disorders such as cryptorchidism and umbilical hernias are relatively safe and effective, rarely are the inherited disorders seen in practice remedied with a simple, relatively low-cost solution. In fact, in many cases of inherited disease, treatment options are extremely limited or non-existent. Therefore, an option to prevent these diseases before they occur would be preferable in most circumstances. Genetic disease testing made possible by the discovery of the causal mutations has become the best medicine to combat many inherited conditions.

Genetic testing of dams and sires has become commonplace in many dog breeds as breeders have recognized the power of identifying those dogs at risk of producing puppies with inherited diseases. Unfortunately, however, some breeders have been slow to adopt the routine use of genetic testing as they continue to rely on traditional selective breeding techniques. Limited by the inability to identify unaffected carriers of disease, selective breeding has historically proven relatively ineffective in the pursuit of large reductions in disease incidence.

Adult and late-onset inherited diseases pose an extra challenge in selective breeding because dogs become sexually mature before signs of the disease ...

The Labrador Retriever Copper Toxicosis Test- Interpretation, Breeding Strategy, and Monitoring

The Labrador Retriever Copper Toxicosis Test- Interpretation, Breeding Strategy, and Monitoring

The liver disease, copper toxicosis (CT) has become a hot topic among Labrador retriever breeders and dog owners with the arrival of a new genetic test which identifies two recently described mutations found in Labradors associated with opposite effects on the amount of dietary copper stored in the liver. As with all new canine genetic tests, questions and concerns may arise from breeders about how to interpret their dog’s test results, how to use this information to maintain the health of their dog, and how to use the information for their breeding program.

What is liver copper toxicosis?

Copper toxicosis is an inherited metabolic disease affecting Labrador retrievers and other breeds, which can result in chronic liver failure. Dogs with copper toxicosis have a decreased ability to excrete dietary copper from the body resulting in excessive copper storage in tissues and organs, including the liver, which can result in liver damage, subsequent cirrhosis and the inability of the liver to function properly. Though the age of onset and speed of disease progression are variable, most affected dogs will present in middle age with non-specific signs of liver dysfunction including weight loss, lethargy, weakness, vomiting, diarrhea, and abdominal pain. In late ...

What’s the Deal with von Willebrand Disease II? - An Important Update for the Boykin Spaniel

What’s the Deal with von Willebrand Disease II? - An Important Update for the Boykin Spaniel

The clotting disorder known as von Willebrand disease (vWD) is a relatively common and potentially lethal disease of dogs. Three general types of vWD (types I, II, and III) have been described based upon the specific genetic cause and level of deficiency in a protein known as von Willebrand factor (vWF), which plays an important role in blood coagulation. Dogs deficient in vWF protein are at risk of potentially life-threatening bleeding episodes when undergoing surgical procedures or as a result of traumatic injury. Therefore, when a relatively high frequency of Boykin spaniels was identified in the Paw Print Genetics (PPG) laboratory to carry a mutation in the VWF gene previously associated with vWDII in German shorthaired and wirehaired pointers (Kramer and colleagues), Boykin spaniel lovers and our team at Paw Print Genetics (PPG) were understandably concerned.

Concern turned to confusion as Boykins expected to be at risk for vWDII (based upon their genetic testing results) failed to show any signs of a clinical clotting disorder. In addition, results of additional blood tests looking at the product produced by the gene on several “at-risk” dogs showed no deficiency in vWF protein and no increase in blood clotting times. At that time ...

What To Test? - Selecting Sample Types for Genetic Testing

What To Test? - Selecting Sample Types for Genetic Testing

With canine genetic disease testing becoming an increasingly common practice in both pets and breeding dogs, more and more veterinarians are being tasked with assisting their clients with sample collection for genetic testing. Paw Print Genetics (PPG) accepts a large variety of sample types that can be used for DNA extraction. In some cases, certain sample types may be much more convenient or logical to submit for testing than others.

Don’t Turn a Blind Eye to Inherited Disease - Preventing Blindness Through Genetic Testing

Don’t Turn a Blind Eye to Inherited Disease - Preventing Blindness Through Genetic Testing

Since we started working with the Boykin Spaniel Society (BSS), both Paw Print Genetics (PPG) and the BSS have learned much about the genetic disease concerns of these wonderful, little brown dogs. By using the founder breeds of the Boykin as a guide, PPG developed the first Boykin spaniel inherited disease testing panel in 2014. Based upon the results collected over two years of testing Boykins, in September 2016, the original disease testing panel was split into two panels; the Boykin spaniel essential panel (containing the most clinically important and/or common diseases) and the supplemental panel (containing diseases of less clinical importance and/or lower incidence).

Two of the four diseases on the Boykin spaniel essential panel are inherited diseases of the eye. Diseases resulting in vision loss or blindness are among some of the most life-altering and troublesome non-lethal diseases of dogs. However, with knowledge of a specific genetic mutation resulting in blindness as well as an understanding of how that specific eye disease is inherited, blindness caused by the mutation can be prevented through the use of genetic testing and informed selective breeding practices based upon test results. Two eye diseases known to be inherited in the ...

Degenerative Myelopathy- An Owner’s Perspective

Degenerative Myelopathy- An Owner’s Perspective

One of the happiest days of my life was bringing home a German shepherd puppy to join our family. Like many parents, my wife and I wanted our only son Brandon, who was 5 or 6 years old at the time, to grow up around dogs and help us teach him some responsibility. We visited a family with a litter of 7 week old puppies to let Brandon pick the one that was going to be his buddy while he grew up. Brandon decided on the quietest pup in the litter to become our new dog, Griffey. Our journey with Griffey (Griff for short) began with Brandon and his new companion in the back of our convertible in route to the home we were excited to share with our new family member. My wife and I were hopeful that Griff would give Brandon a best friend for 10 to 13 years. Unfortunately, that wasn’t exactly how things worked out.

Signs of Trouble

We spent many years loving Griff and giving him the best years of his life. Brandon and Griff were inseparable as they aged. They played together, they napped together, and they got into trouble together. At about 8 ...

Prevention is Smart Breeding- Cystine Bladder Stones in the Newfoundland Dog

Prevention is Smart Breeding- Cystine Bladder Stones in the Newfoundland Dog
'Scout' courtesy of Brad Geddes via Flickr, Creative Commons license

From its early history as a North American working dog used to retrieve fishing nets and perform human water rescues, the beautiful and intelligent Newfoundland dog has carved out a well-deserved place in the heart of dog lovers around the world. Their characteristic large size, marked by heavy bones, powerful musculature, webbed feet, and thick hair coat make the Newfoundland particularly adept at tasks involving swimming. However, they are just as capable and content pulling carts on land and performing other land-based tasks. In addition, their generally calm, loyal, and affable temperament have helped establish them as great family dogs.  

Over the years, Newfoundland breeders have selectively bred dogs that have displayed the most desirable characteristics in an effort to improve their breed. Unfortunately, alongside these desirable traits, sometimes the predisposition to produce offspring with certain inherited diseases are also silently passed from generation to generation in the form of genetic mutations. Such a genetic mutation found in the canine SLC3A1 gene (first described in 2000) is responsible for a potentially life-threatening condition in the Newfoundland known as cystinuria. Luckily for Newfoundlands and those that love them, cystinuria can be eliminated from most blood lines through the incorporation of ...

Prevention Is Smart Breeding- Urate Bladder Stones in the Spanish Water Dog

Prevention Is Smart Breeding- Urate Bladder Stones in the Spanish Water Dog

Though reliable accounts marking the early origins of the Spanish water dog (SWD) are lost to history, likely ancestors of the SWD (and probably the Portuguese water dog) were described in the Iberian Peninsula around the 12th century. Primarily used as a herding breed, the Spanish water dog has also been trained to perform tasks for fishermen and hunters including towing boats to shore, gathering fishing nets, and retrieving game from waterways. Though still used as working dogs in modern day Spain and other countries, the demand for Spanish water dogs dropped precipitously during the industrial revolution of the late 18th and early 19th centuries when machines took over many tasks historically performed by the SWD and other breeds. This decrease in demand led to a decline in the world Spanish water dog population which still remains relatively small today.

In general, dog breeds with smaller population sizes tend to also have a smaller amount of genetic diversity within the breed. This means that any two individual dogs from a small breed population are more likely to share the exact same genetic information at any given location in their genome, including disease associated genetic mutations. This is ...

Prevention Is Smart Breeding- Progressive Retinal Atrophy and the American Eskimo Dog

Prevention Is Smart Breeding- Progressive Retinal Atrophy and the American Eskimo Dog

Despite its name, the roots of the American Eskimo dog can be traced back to Germany where it was known as a white colored, miniature to medium sized variety of the German spitz. This well rounded farm dog came to the United States with German immigrants in the early 20th century and adopted the name American spitz in the World War I era when war related anti-German sentiment and American patriotism were widespread. The breed was first recognized as the American Eskimo dog (AED) by the United Kennel Club in 1919 and was accepted by the American Kennel Club for registration in 1995. Known for its alert demeanor, the AED makes an excellent watchdog that alarms its family of potential danger through warning barks. The AEDs intelligence, fast learning, and desire to please have made it a competitor in the agility ring and obedience trials. Though not universally recognized as three separate varieties, the modern AED is often split into three size groups (toy, miniature, and standard).

Despite its many talents, beautiful physical characteristics, and intelligence, like other pure breeds, the AED has developed some inherited disease concerns over the course of its development that have caused significant issues ...