Author archives: Casey Carl

Inherited Diseases of the German Shorthaired Pointer

Inherited Diseases of the German Shorthaired Pointer

If you already own a German shorthaired pointer (GSP) or if you are currently in the market for one, you likely realize the high level of intelligence and performance of this breed. With proper training, this high energy gundog can become a hunter’s best friend. Whether running long distance across rough terrain or diving into the water to retrieve a bird, the GSP is happy to work hard, please their owner and most of all, to hunt. Though a relatively healthy breed overall, like all dog breeds, sometimes GSPs can be born with inherited conditions that make life difficult for them or prevent them from doing the jobs that they were bred to perform. 

Some diseases reported in GSPs such as hip dysplasia, entropion, and some cancers, are likely inherited though the specific genetic mutations associated with these disorders are currently unknown. On the other hand, GSPs also can inherit diseases caused by known genetic mutations. Knowledge of specific mutations and how the diseases are inherited, allows for laboratories such as Paw Print Genetics to develop tests to identify dogs that are either genetic carriers or are affected with a particular disease. Paw Print Genetics offers tests for three ...

Skeletal Dysplasia 2: A cause of dwarfism in the Labrador retriever

Skeletal Dysplasia 2: A cause of dwarfism in the Labrador retriever

Thanks to human selection and breeding, the physical appearance of dogs varies tremendously. Using only physical attributes as a guide, it’s safe to say that most uninformed biologists would have a hard time believing that a Chihuahua and a great dane were from the same species, let alone that they were capable of producing viable offspring together. In order to facilitate such dynamic intraspecies diversity of canines, people have long used random genetic mutations to their advantage. One example is the selection for various forms of dwarfism. Breeds such as the dachshund, corgi and the Basset hound have been created through selective breeding of individuals with a genetic mutation of the FGF4 gene that when inherited from one of their parents, leads to the characteristic short legs of these breeds. While a mutation for dwarfism is an expected standard for some breeds, it can be particularly undesirable in others.

A prime example of an undesirable mutation (especially for working dogs) is a mutation in the COL11A2 gene that causes a generally mild disproportionate dwarfism in the Labrador retriever known as skeletal dysplasia 2 (SD2). Disproportionate dwarfism is characterized by one or more body parts being smaller in comparison to overall ...

I want one-stop genetic screening. Do you offer a test for von Willebrand disease?

I want one-stop genetic screening. Do you offer a test for von Willebrand disease?

No bones about it, being a great dog breeder is tough work! Picking dams and sires, health testing, monitoring heat cycles, caring for pregnant dams, vaccinating and deworming, and promoting and selling your puppies are just a few of the many tasks one must accomplish to be a top notch breeder.

One task that has historically been overly complex and time consuming for some breeders is getting genetic testing performed on their dogs. In the past, this often meant sending samples off to multiple laboratories to get testing performed because it was unusual for canine genetics laboratories to offer all of the tests needed under one roof. In addition, this situation meant filling out multiple submission forms, obtaining proper samples for each lab, and in some cases, waiting for several weeks for results. When Paw Print Genetics opened the doors for testing in 2013, it marked the beginning of the end for what I have termed the “multi-laboratory genetic testing dilemma” that most dog breeders were used to. Now, with over 140 genetic tests in well over 200 breeds, Paw Print Genetics has made a commitment to make canine genetic testing more convenient, user-friendly, and more affordable.

One important genetic ...

Double J Dog Ranch - A special place for special dogs

Double J Dog Ranch - A special place for special dogs

At Paw Print Genetics we are passionate about prevention of inherited diseases of dogs. Through modern technologies, there are over 150 inherited diseases that can now be prevented through genetic testing of breeding dams and sires. Through use of the information gained from testing, informed decisions can be made for choosing breeding pairs to avoid producing pups afflicted with certain inherited diseases. Unfortunately however, not everyone that currently breeds dogs is aware of genetic testing availability or the importance of these genetic technologies in the overall well-being of their favorite breed. As a result, thousands of dogs are born every year with diseases that can now be prevented.

While the ability to prevent inherited diseases brings happy thoughts, the outcomes of dogs bred without the use of genetic technologies can be much less joyous. Historically, many dogs born with inherited disease were either euthanized or died due to complications of their condition. However, Paw Print Genetics was recently invited to visit a sanctuary for dogs called Double J Dog Ranch, where dogs with special needs find compassion, training, and eventually their forever home, through adoptions to families prepared for the unique opportunity of owning a special needs dog. Many of ...

I've heard about cystinuria in Labradors. Should I be concerned?

I've heard about cystinuria in Labradors. Should I be concerned?

It is a very exciting time in canine genetics. Every month, new discoveries are making their way out of the laboratory and into scientific journals, thus disseminating new information to the scientific community. Some of these discoveries are newly identified, disease associated genetic mutations. Knowledge of a specific mutation and the way a condition is inherited allows for diagnostic laboratories such as Paw Print Genetics to develop new genetic tests for a particular disease. It has been the goal of Paw Print Genetics to offer a comprehensive menu of tests for our clients. This helps our client breeders improve their bloodlines and also assists prospective puppy buyers in purchasing a dog free of known inherited diseases. Therefore, Paw Print Genetics makes every effort to stay current with new mutation discoveries and medical updates in order to offer testing that will help improve overall canine health.

One such test that has recently been added to our expansive menu of test offerings is for a condition in Labrador retrievers known as cystinuria. Cystinuria in the Labrador is a condition caused by a mutation of the SLC3A1 gene. This gene functions as a blueprint for a protein that allows the kidneys to transport ...

Are Dalmatians the only breed to develop urate bladder stones?

Are Dalmatians the only breed to develop urate bladder stones?

It is no secret among many Dalmatian owners and their breeders that their beautiful breed is prone to developing bladder stones (uroliths) made of urates as they have historically been the poster puppies for the inherited condition, known as hyperuricosuria. However, many don’t realize that the same genetic mutation responsible for these stones has been reported in over a dozen breeds of dog, although at a much lower frequency.

Urates are formed from uric acid, a product of the breakdown of natural compounds of the body and from our food, known as purines. Affected dogs are predisposed to the formation of these bladder stones due to a mutation in the SLC2A9 gene1; a gene that serves as the blueprint for a protein responsible for transporting uric acid in the body. In dogs free of this mutation, this transporter plays an important role in transporting uric acid from the blood into the liver for degradation and from urine produced in the kidney, back into the blood. Affected dogs cannot perform these tasks adequately, thus resulting in a high level of uric acid in both the blood (hyperuricemia) and urine (hyperuricosuria). The disorder is inherited in an autosomal recessive fashion meaning ...

Dermoid Sinus: Are we on the “ridge” of a paradigm shift?

Dermoid Sinus: Are we on the “ridge” of a paradigm shift?

Since early in canine domestication, humans have been selecting individual dogs with desirable behavioral and physical traits to be founder breeding animals for the hundreds of dog breeds we have today. Early on, the traits selected for were often of great importance for their role as working animals. With time, as the world of dog fanciers took shape, dogs with particular physical traits of aesthetic value began to be the chosen bearers of future generations regardless of their ability to work. Unfortunately however, there are multiple examples of selected physical traits that are significant risk factors for disease.

One important example is a disorder seen in Rhodesian ridgeback (RR) dogs known as a dermoid sinus that has been associated with the characteristic “ridge” trait in the skin overlying the spine. In 2007, a large genetic duplication on canine chromosome 18 was identified as the underlying genetic cause of the ridge in this breed.2 Unfortunately, the same genetic duplication responsible for ridge formation has also been found to predispose RRs to formation of dermoid sinuses.1,2

Dermoid sinuses are tubular to round shaped cavitations in the skin often filled with hair and keratin that are present at birth. It ...

The Health Benefits of Pet Ownership: Conventional Wisdom or Conventional Hogwash?

The Health Benefits of Pet Ownership: Conventional Wisdom or Conventional Hogwash?

Like many scientists, I despise conventional wisdom. Given that I’m a veterinarian, this is especially true when it comes to medical conventional wisdom; the type of beliefs I remember many adults from my childhood relaying as fact that, I too, held as true for many years. Despite what my family told me in youth, I’ve since learned that shaving my body hair didn’t actually make it thicker, that reading in low light didn’t hurt my eyesight, and that vitamin C didn’t cure my cold. Nearly every day you can find postings on social media that appear to be based on fact, but are actually pieces of 21st century conventional wisdom. One such Facebook posting recently struck near and dear to my veterinary heart. The posting was a link to an article discussing the ways dog ownership can improve our health. After reading the story, I decided to do some digging to see if there was science behind the claims being made. Since childhood, I had heard that pet ownership was good for our health. I heard it lowered blood pressure, prevented heart attacks, and otherwise improved our quality of life. But is it true?

Finding good evidence to support ...

Let Sleeping Dogs Lie, or Test for Narcolepsy?

Let Sleeping Dogs Lie, or Test for Narcolepsy?

If I could be a dog for a week, I think I would enjoy sleeping the most. I’ve occasionally found myself jealous of my little terrier mix, snoring away as I wipe the sleep from my eyes in an attempt to get my day started. On his back, with all four legs in the air and dreams of rawhides in his head, he frequently reminds me that life doesn’t always have to be such a rat race. While both dogs and humans tend to share their appreciation for a little “R and R”, there are many conditions where sleep is no longer just a common necessity, but a frustrating burden. Whether it’s an inability to sleep or an inability to stay awake, most people with sleep disorders will attest to the overall decrease in life quality due to their sleep disturbance. One such troubling disorder that we share in common with our dogs is narcolepsy.

Narcolepsy is a rare condition marked by excessive daytime sleepiness frequently accompanied by a phenomenon known as cataplexy. Cataplexy is a non-painful recurring condition caused by acute episodes of decreased muscle function leading to a variable clinical presentation from mild muscle weakness to complete collapse ...

The Mystery of Canine Bloat

The Mystery of Canine Bloat

Seeing a dog with a distended stomach, unproductive attempts at vomiting, weakness, and rapid, strained breathing is sure to strike fear into the heart of any dog breeder or owner. These classic signs of gastric dilatation and volvulus (GDV) or “bloat” as it is colloquially known, are the worst enemy of anyone who has experienced this traumatic, life-threatening condition that often affects otherwise healthy dogs. The significance of the heartbreak caused by this disease has been made obvious to me by the numerous clients that have inquired about genetic testing for this condition at Paw Print Genetics. Though many suspects have been implicated in the cause of GDV in our dogs, unfortunately no single risk factor, including a genetic mutation, can adequately explain the lion’s share of cases at this point. With an estimated 21-24% chance of large and giant breed dogs developing GDV within their lifetime (Broome and Walsh 2003), it is no surprise that people would love to find an easy, low-cost and predictable way to prevent this disease.

GDV is a condition marked by rotation of the stomach on the upper end near the esophagus. This rotation closes off the opening between the stomach and esophagus, thus ...