The Paw Print Genetics Blog

Keep Breed-Specific Thinking from Delaying Your Diagnosis

Keep Breed-Specific Thinking from Delaying Your Diagnosis

Discovery of disease-associated, canine genetic mutations has greatly increased over the past two decades. As a result, identification of these mutations through genetic testing has quickly become a useful tool for dog kennels and veterinary practices by allowing for the identification of asymptomatic disease carriers, diagnosis of affected dogs, and prevention of inherited diseases through informed breeding practices. However, because mutation discovery is often funded by specific breed clubs with interest in a breed-related disease concern, study investigators may not perform extensive, species-wide population studies for a newly discovered mutation. Therefore, in many cases, additional breeds inheriting the same mutation (and developing the same disease) may remain unknown for quite some time after the initial discovery.

As any modern veterinarian can attest, for better or worse, animal lovers have more veterinary medical information at their fingertips than ever before. Occasionally, at Paw Print Genetics, we are contacted by breeders or owners whose veterinarian had opted not to pursue a diagnosis that the client suspected because of the veterinarian’s historical understanding of a disease’s breed-specific distribution rather than the current knowledge. For veterinarians building a differential diagnosis list, keeping the mind open to a particular inherited disease manifesting in an unexpected ...

Paw Print Genetics Offers Tests for the Alaskan Malamute

Paw Print Genetics Offers Tests for the Alaskan Malamute

Genetic testing is important for any breed, for the dog’s individual health and wellbeing as well as for any breeding dogs to ensure healthy puppies in future generations. Paw Print Genetics offers genetic testing for three diseases known to occur in the Alaskan Malamute. Testing for these diseases provides you the information that you need to keep your dog healthy and to select appropriate breeding pairs to avoid producing affected puppies.

The first disease is the Alaskan Malamute Polyneuropathy. This disease is an inherited neuromuscular condition that affects dogs between the ages of 3 and 19 months of age. The first signs of this disease may be a change in their bark, noisy breathing, exercise intolerance and loss of hindlimb coordination. The disease is progressive resulting in muscle wasting, abnormal gait or inability to walk. Testing of this disease is required for CHIC and using results in your breeding program can eliminate producing affected pups.  This disease is inherited in a recessive manner meaning that two copies of the mutation are required to produce the symptoms of polyneuropathy. Dogs that have one copy of the mutation are carriers and are not affected. Breeding carriers to clear (normal) dogs will ...

New Test for Australian Shepherds and Related Breeds - Intestinal Cobalamin Malabsorption

New Test for Australian Shepherds and Related Breeds - Intestinal Cobalamin Malabsorption

Intestinal cobalamin malabsorption, also known as Amnionless Deficiency, Cobalamin Deficiency, Imerslund-Grasbeck Syndrome (IGS), and Vitamin B12 Deficiency, is an inherited disease found in the Australian Shepherd and related breeds (Miniature Australian Shepherd, Toy Australian Shepherd, Miniature American Shepherd). The disease is inherited in a recessive fashion and as such, dogs that inherit two copies of the mutation are at risk for the disease. The disease is caused by the inability to make adequate amounts of a protein that plays a role in absorption of certain nutrients from the intestinal tract and kidneys, including the B vitamin, cobalamin. Affected dogs have increased levels of methylmalonic acid in their urine (a sign of cobalamin deficiency) after weaning, but symptoms of disease may not be recognized by owners for months or years. Symptoms of disease include anorexia, lethargy, poor weight gain, poor muscle mass, and in rare circumstances, a severe neurological dysfunction called hepatic encephalopathy that can lead to altered mental state, seizures, coma and death. Affected dogs require treatment with cobalamin supplementation throughout their life.

Because of the severity of this condition and the fact that it is treatable, this test has been added to the breed-specific panels for Australian Shepherds and related breeds ...

Paw Print Genetics - Setting the Bar for Standards in Canine Genetic Testing

Paw Print Genetics - Setting the Bar for Standards in Canine Genetic Testing

Paw Print Genetics is special and I am not just saying that because I am the CEO. There is no other canine genetics laboratory like PPG. Seriously!  Paw Print Genetics is the only laboratory that has implemented human-based testing standards. What does this mean?  It means that PPG tests each mutation region twice with two different methods to ensure the highest accuracy possible. No laboratory can boast 100% accuracy, but PPG achieves 99.9% accuracy each and every day. This means that you can trust your results and use them confidently in your breeding program. In addition, PPG employs both PhD Geneticists and licensed Veterinarians on staff, in our offices, that oversee the testing and report the results. You can also call and speak to them if you have any questions or concerns. Finally, I am the only board certified geneticist in the canine field; I am board certified by the American Board of Medical Genetics. These three aspects - the 'double check testing', having geneticists and veterinarians on staff, and having a board certified geneticist on staff - are equivalent to the requirements found in human genetic testing laboratories.

In addition to our high testing standards and customer access ...

If a cavalier King Charles spaniel falls in the woods and no one’s around, is it episodic falling syndrome?

If a cavalier King Charles spaniel falls in the woods and no one’s around, is it episodic falling syndrome?

There aren’t many things sweeter in life than a cavalier King Charles spaniel (CKCS). From their friendly, outgoing demeanor to their adorable, pouty eyes, they have definitely become one of my favorite breeds over the years. It appears that others understand my enthusiasm for the breed as well. In the fifteen years from 2002 to 2017, CKCS have moved up from 40th place to 19th place on the AKC’s registration statistics and are one of the most popular breeds in the United Kingdom. Unfortunately, like other popular dog breeds, cavaliers have their share of inherited diseases that can potentially reduce their quality and quantity of life. At Paw Print Genetics, we strive to control these diseases for our canine companions.

One interesting yet, debilitating disease unique to the CKCS is an inherited neurological condition first reported in 19831, known as episodic falling syndrome (EFS). Affected dogs begin showing signs of spastic muscle contractions of the limbs and trunk between 14 weeks and 4 years of age particularly during exertion, excitement, or frustration. As an episode starts, affected dogs most commonly develop rigid hind limb extension, a convex bending of the spine (“roach backed”), and hold their head near the floor ...

Why is a Dam’s Sample Needed for Parentage Testing?

Why is a Dam’s Sample Needed for Parentage Testing?
Example for marker “A”: Pup is 1,3, Mother is 1,1 and Father is 2,3. The pup inherited allele 1 from the mother and allele 3 from the father.

At Paw Print Genetics, we are often asked this question: “Why do I need to send in a sample on the dam if I just want to know the father of my pups?”. The simple answer is because we need to compare the DNA of the pup to both parents in order to confidently confirm or exclude a potential sire.  Here is an example that helps explain why we need both parents for parentage testing. Keep in mind that a pup receives half of its DNA from its mom and half of its DNA from its dad, so for every marker that we examine, the pup has one allele (gene copy) from mom and one allele (gene copy) from dad.

For parentage (paternity) testing, we use a set of 99 informative markers to confirm or exclude a potential sire. For each marker, we get two results because the pup has two sets of DNA, one from the mom and one from the dad. The two alleles are each assigned a number based on their DNA sequence.  For example, for marker “A”, the pup might be 1,3; one allele has sequence 1 and the other allele has ...

Breeding Carriers of Canine Recessive Diseases- Why It Should be Considered

Breeding Carriers of Canine Recessive Diseases- Why It Should be Considered

The breeding of dogs identified as genetic carriers of recessive disease is a hotly debated topic in the canine breeding world with many breeders firmly entrenched in their own personal approach to the issue. With increasing regularity, dog breeders and their clients are bringing genetic questions (including those about breeding carriers) to their veterinarians under the assumption that most veterinarians would be up to speed on the current information and genetic testing available. Unfortunately, at Paw Print Genetics we occasionally speak to breeders whose veterinarians have given them advice about breeding carriers that may not be in the best interest of the kennel or the breed. Given the large number of variables and differences between the way kennels are operated and the recessive disease risks of individual breeds, there is not necessarily a breeding approach that would be appropriate in 100% of cases. However, understanding some guiding principles and the potential ramifications of doing so, can help a veterinarian advise their dog breeding clients in a way that will help them meet their goals without increasing the incidence of recessive diseases in a kennel or in the breed.

What is a “Carrier” of a Recessive disease?

As a quick refresher ...

Paw Print Genetics and the Australian Shepherd Health & Genetics Institute conclude Pilot Project on Blue-eyed Tricolored Dogs

Paw Print Genetics and the Australian Shepherd Health & Genetics Institute conclude Pilot Project on Blue-eyed Tricolored Dogs
Photos courtesy of LeeAnna Moore, Cross L Australian Shepherds

Paw Print Genetics was approached by the Australian Shepherd Health & Genetics Institute (ASHGI) to conduct a pilot project on blue-eyed, tricolored (BET) Australian shepherds (Aussies) to understand whether these dogs have the SINE insertion in the PMEL gene that can cause a variety of coat color and pattern variations known as merle.  Identifying whether these dogs do or do not have the merle mutation can help inform how to conduct a larger research study.  The merle mutation seemed a logical place to start, as dogs with classic merle coat color patterns can have blue eyes [Clark et al., 2006].

With the help of ASHGI and several breeder volunteers, we collected 38 BET dogs that have blue eyes but no coat variations associated with carrying a copy of the merle mutation. These dogs were not randomly selected from the whole Aussie population, but rather, were sent to us from the breeder volunteers. Thus, many of the dogs collected may have been related.

Paw Print Genetics recently launched a high-resolution test for merle that allows for identifying variation within the SINE insertion and allows for discrimination of the various possible merle alleles. Using this DNA sequence-based, high-resolution test, we ...

Help! I Bred Two Cream Dogs and Got an All Black Litter!

Help!  I Bred Two Cream Dogs and Got an All Black Litter!

The genetics of coat color inheritance for an individual dog can be confusing, and for some breeds, determining the potential colors of your pups can be even more difficult. For those breeders that are concerned or simply curious about potential coat colors of their future litters, genetic testing of prospective parents can save a lot of time, money and heartache when it comes to predicting colors. 

This color chart attempts to show how the various, known genes interact to produce certain colors. Some genes are dominant over other genes, while some alleles (specific copies of a gene) are dominant over other combinations of alleles at the same gene (or locus) or dominant over other genes in this pathway. By understanding how these genes interact, you will be able to better predict the outcomes in your breeding program.

So how can two light colored parents produce an all black litter? In some breeds, such as the Labrador retriever, it is not possible for two yellow parents to produce black or chocolate pups because the gene that controls whether a dog is yellow or black is the E locus. Yellow Labs are ee and black Labs are either Ee or EE ...

Why Do My Dog’s B Locus Results Say ‘maybe black or brown’?

Why Do My Dog’s B Locus Results Say ‘maybe black or brown’?

Coat color genetics can be very confusing. There are many different genes that can contribute to the overall coat color in a dog and for each gene, there can be different mutations that can contribute to color variations.  The B locus (or gene) is responsible for many of the brown coat colors seen in dogs (also referred to as chocolate or red, depending on the breed).  When performing genetic testing of the B locus, the test result is determined by examining three specific locations within the B gene of a dog, known as the bc, bd, and bs. The overall B locus genotype for a dog is determined by the combination of genotypes (variations) present at the bc, bd, and bs loci (locations within the B gene). 

For most genes in the dog, there are two copies of that gene, one inherited from the mom and one inherited from the dad.  The B locus is no exception in that although both parents have two copies of the B locus, the mom contributes only one copy of the B locus to each of her pups, randomly selected from her two B alleles that she carries ...