Tag archives: dog genetics

Von Willebrand disease (vWD) is arguably the most well recognized canine blood clotting disorder. A common genetic mutation in the VWF gene (first described in the Doberman pinscher in 2001) has played a significant role in increasing the recognition of vWD as a cause of clotting problems in dogs¹. Genetic testing for this mild to moderate platelet disorder, known as vWD type 1 (vWD1 or vWDI), has played an important role in assisting veterinarians in diagnosis and in assisting breeders in identification of non-symptomatic carriers of the mutation prior to breeding. Since that time, dozens of other breeds have also been found to be affected by the same mutation. Thus, solidifying vWD as a potential concern for many dog lovers. In addition, other genetic mutations in the VWF gene have also been associated with more severe forms of von Willebrand disease (type 2 and type 3) in some breeds.

Despite the important role of testing some breeds for the identified vWD1 mutation, it is also important to keep in mind that hemostasis is an incredibly complex process involving multiple physiologic steps and the interaction of many protein clotting factors, various cell types, and endogenous molecules. In some breeds, other ...

To usher in 2022, Paw Print Genetics (PPG) has added 12 new canine disease and trait tests to expand upon the largest selection of canine genetic tests in the industry. However, because diseases seen in veterinary practice are not seen with equal frequency, here I will highlight five of the new test offerings for diseases that are among the most likely to be encountered in veterinary practice. 

Ataxia (Norwegian Buhund Type)¹- Norwegian Buhund

Ataxia (Norwegian buhund type), also known as cerebellar ataxia, is an early-onset autosomal recessive neurological disease affecting the Norwegian buhund. Dogs inheriting two copies of the associated KCNIP4 gene mutation present between three and five months of age with progressive neurological disease. Initial clinical signs are consistent with cerebellar ataxia, including wide-based stance, hypermetria, head tremors, and truncal sway. As the disease progresses, dogs are eventually unable to stand or walk without falling. Cerebellar degeneration is a common histopathological finding in affected dogs and dramatic reductions in cerebellar KCNIP4 protein have been described. The speed of disease progression is variable, but affected dogs are often euthanized due to quality-of-life concerns.

In one study, 19% out of 146 apparently healthy Norwegian buhunds tested carried one copy ...

Paw Print Genetics has a history of supporting genetically healthy breeding no matter the breed. With the rising popularity of various doodles and other mixed breed dogs, we created panels for the diverse poos and doodles that contain the most common and important genetic tests from the founder breeds. These panels have become essential components for many breeders as they strive to produce the healthiest puppies possible.

From time to time, we review all our panels to ensure that they contain the most appropriate tests. Tests are selected for the Essential Panel (or just the Panel if there are only a few tests for a breed) based on (1) the frequency that we are identifying a specific mutation in the founder breeds, (2) the severity of the condition, with more severe conditions that should be avoided included in the Essential Panels and (3) the availability of treatments for the condition. Panels will vary among the doodles and poos based on the founding breeds, so it is important to select the panel that best fits your mixed breed dog.

We recently reviewed the panels for doodles, poos and other mixed breed dogs. You can search your breed by clicking here. You may ...

By Casey R. Carl, DVM and Blake Ballif, PhD

A topic in veterinary genetic testing currently getting significant attention is the difference between direct and indirect genetic testing for mutations associated with various diseases and traits. Although both types of testing can play a useful role in determining a dog’s genetic health status, the use of indirect genetic testing comes with some additional caveats that need to be considered when selecting the best testing strategy for a particular dog.

Direct Genetic Testing

As the name indicates, direct genetic testing is a general term for any genetic testing technique which looks for the presence of the specific genetic variant (mutation) known to play a causal role in a particular disease or trait. Therefore, regardless of which genotyping technique used, test results obtained from direct testing identify the presence or absence of the specific mutation that has been associated with the disease or trait. Barring differences in quality of laboratory practices and test development, direct testing is therefore the ideal method to detect a specific mutation. Furthermore, identifying the precise causative mutation in a DNA sample from a dog allows one to draw appropriate conclusions about the implications of this mutation in this ...

2021 has been an exciting year for Paw Print Genetics (PPG) and canine genetic health. With the addition of 15 new genetic disease and trait tests in July 2021, PPG has now added more than 50 new canine test offerings this year alone! However, when it comes to specific genetic diseases, variability in the population size of affected breeds and the frequency of the associated mutations, means that some diseases are much more likely to be seen in veterinary hospitals than others.

Here we will highlight four new genetic disease tests offered at PPG for canine diseases common enough to be seen in general veterinary practice. In addition, we will briefly discuss PPG’s new web-based disease and coat color probability calculators which assist breeders and veterinarians in selecting ideal parents for producing healthy puppies in the coat colors and patterns desired.

Progressive Retinal Atrophy (Giant Schnauzer Type)¹- Giant Schnauzer, German Spitz, German Spitz Klein, Keeshond, Miniature Smooth and Longhaired Dachshund, Pomeranian

Progressive retinal atrophy (Giant Schauzer Type), also known as generalized PRA or PRA5, is an autosomal recessive form of PRA affecting the giant schnauzer and several other breeds. Dogs inheriting two copies of the associated NECAP1 gene ...

I founded this company in 2012 with a single vision, to raise the bar regarding canine genetic testing. Since then, Paw Print Genetics (PPG) has tested more than 200,000 dogs and has provided the most comprehensive menu of tests for inherited diseases and traits across more than 350 breeds of dog. We have helped more than 34,000 customers gain access to genetic knowledge to help them improve their breeding program.

Today is National DNA Day – the day we celebrate the successes of the human genome project. The human genome was completed in 2003 and this opened the door to the sequencing of other animal genomes. With knowledge of the dog genome, which was published in 2005, researchers are now able to identify the DNA changes (called mutations or variants) that contribute to hundreds of traits and diseases in dogs.  Once these variants have been identified, we can use this knowledge to develop tests to identify these DNA changes in your dogs.

The unraveling of the dog genome has not only allowed discoveries of single gene mutations but has offered the opportunity to identify and better understand the complexities that exist for some traits and diseases. No ...

Canine progressive retinal atrophy (PRA) is a group of inherited eye diseases which are among the most common causes of inherited blindness in domestic dogs. Extensive study and characterization of the various PRAs have led to the discovery of well over a dozen different genetic mutations in many different genes which can now be identified to help prevent, predict, or diagnose PRA in many breeds. However, complicated PRA naming schemes and the breed-specific nature of the PRA tests can make it challenging for dog breeders or veterinarians to select the correct test for the dog in front of them.  

Multiple Genes, Similar Clinical Findings

The known underlying mutations associated with the various forms of PRA are found in a wide variety of different genes. Thus, highlighting the complexity of the biological pathways involved in the development and ongoing maintenance of the eyes. PRAs are marked by the abnormal development and/or the gradual degeneration of rod and cone photoreceptor cells of the retina. Each type of PRA may display variation in the age of onset, speed of disease progression, and the relative rates at which each of the two photoreceptor types are destroyed. However, when it comes to clinical ...

The leaves are falling and the pumpkins are reaching their proper jack ‘o lantern size. Soon children everywhere will be dining on a steady diet of Halloween candy while many of us adults relive our youth by taking full advantage of the one day every year we can pretend to be someone (or something) else. Though many dogs also enjoy the excitement that Halloween brings, this time of year can present additional hazards and stressors for our canine friends.

Alcohol and Junk Food

Although Halloween parties in 2020 are likely to be much different than in years past, our opportunistic dogs are still likely to find themselves around more potentially dangerous food and drink than is typical in their daily lives. A cocktail placed at dog height or a single plate of carelessly placed food have been known to ruin more than one celebratory day.

Alcoholic beverages are a particular concern for dogs during holidays and celebrations. Dogs under the influence of alcohol tend to suffer the same consequences as their overindulgent human counterparts including drowsiness, vomiting, lack of coordination, and slow reflexes. Dogs consuming toxic levels of alcohol may experience depression, breathing and heart rate abnormalities, collapse, low ...

Shortened legs are a major defining feature for some of today’s most popular domestic dog breeds. Although dogs with extreme shortening of the limbs likely come to mind when pondering this trait (such as dachshunds or basset hounds), many other breeds also display a more subtle or moderate limb shortening (e.g. West Highland white terrier, Nova Scotia duck tolling retriever, beagle). Unfortunately, in some breeds, dogs with shortened legs have also been found to be at an increased risk for early-onset intervertebral disc disease (IVDD). However, over the past several years, genetic discoveries and development of genetic testing have made it possible to better understand the short-legged appearance of some dog breeds and the genetic underpinnings which make some of these dogs more likely to develop IVDD.

Shortened Legs and Genetic Link to Intervertebral Disc Disease

Two genetic mutations associated with shorter limb length have been reported in domestic dogs^2,4,5. Both mutations consist of a duplicated section of the canine FGF4 gene (called an FGF4-retrogene) which has been inserted into two aberrant locations of the genome; one copy has been inserted into a region on chromosome 12 (CFA12 FGF4 insertion) and the other copy has ...

Shortened legs are a major defining feature for some of today’s most popular domestic dog breeds. Although dogs with extreme shortening of the limbs likely come to mind when pondering this trait (such as dachshunds or basset hounds), many other breeds also display a more subtle or moderate limb shortening (e.g. West Highland white terrier, Nova Scotia duck tolling retriever, beagle). Unfortunately, in some breeds, dogs with shortened legs have also been found to be at an increased risk for early-onset intervertebral disc disease (IVDD). However, over the past several years, genetic discoveries and development of genetic testing have made it possible to better understand the short-legged appearance of some dog breeds and the genetic underpinnings which make some of these dogs more likely to develop IVDD.

Intervertebral Discs and the Spinal Cord

In order to understand IVDD, we must first understand the role, location, and structure of the intervertebral discs (IVDs) and their anatomical relationship to the spinal cord. IVDs play a crucial role as cartilaginous ‘shock absorbers’ for the spine and allow for spinal flexibility. IVDs are often compared to a ‘jelly doughnut’ sitting between the vertebrae as they are composed of an outer ring of tough fibrous ...