Blog Archives for the year 2014

Does the same mutation always cause disease?

Does the same mutation always cause disease?

Paw Print Genetics is often asked if the same mutation always causes genetic disease, especially when the mutation is identified in a breed different from that originally investigated.  The answer is not simple.  For many of these types of genetic questions, I go back to my ‘human’ roots as a human geneticist.  Because more than 4,500 diseases and their genetic causes are known, human genetics can shed considerable light on problems just beginning to be investigated in dogs.

Currently, there are about 185 known mutations in dogs, with about 150 that cause disease and another 30 or so that cause traits such as coat color or coat length.  In dogs, these disease-causing mutations have been narrowly defined to certain breeds or certain clinical features (phenotypes), but is this always the case?

In human genetics, anything imaginable has been described. Certainly, there are diseases that are caused by single mutations; in this case, one mutation causes one disease.  But there are many examples of multiple mutations in one gene causing one disease and examples of multiple mutations in multiple genes causing one phenotype (one disease).  Likewise, there are many examples of the same exact mutation ...

Stupid Human Tricks. How Well Does Your Dog Have You Trained?

Stupid Human Tricks. How Well Does Your Dog Have You Trained?

We train our dogs to do certain things, like sit, stay, lay down, retrieve or even run through an agility course. Training a dog takes patience and persistence. It means providing consistent clues that your dog will eventually come to understand if done in the same manner. But I’ve recently come to wonder, have I trained my dog, or has she trained me?

Every time we sit down to eat dinner, our dog Daisy runs to the front door, whips around and stares at us. Invariably, one of us says, “Daisy needs to go out” and my daughter groans, gets up and lets her out.   Most of the time, Daisy does her business, but sometimes, she runs out to the middle of the yard, expecting my daughter to follow her and hopefully play.  This has led us to believe that Daisy’s behavior of running to the door and then staring us down, has trained us to respond in a particular way, and has us wondering if she brags to the other dogs that she has trained her human to stand up and open the door on command.

Likewise, Trixie the Wiener Dog has my husband trained to take ...

Dry Eye Curly Coat Syndrome: A Preventable Inherited Disease of the Cavalier King Charles Spaniel

Dry Eye Curly Coat Syndrome: A Preventable Inherited Disease of the Cavalier King Charles Spaniel

As I discussed in a previous blog, the US and the UK have a soft spot in their heart for the Cavalier King Charles spaniel (CKCS). The popularity of the breed has exploded over the past 15 years and is continuing to climb the AKC registration statistics. In 2013, the CKCS moved up to the 18th most popular dog registered with the AKC (up from 20th place in 2012 and 40th place in 2002). With this gain in popularity comes a larger number of owners voicing their concern about inherited diseases that affect the breed. However, through the use of modern genetic testing technology, some inherited diseases can be completely eliminated. One such inherited disease is dry eye curly coat syndrome (DECC); a disease caused by a mutation in the FAM83H gene and unique to the CKCS.

To the knowledgeable eye, dogs affected with DECC can often be identified at birth (or shortly after) due to the presence of a rough or curly coat which does not grow well initially. Following eyelid opening, affected dogs will have frequent, recurring episodes of conjunctivitis sometimes accompanied by painful ulceration of the corneas due to the inability to produce adequate ...

Amelogenesis Imperfecta: An Inherited Dental Disease of the Italian Greyhound

Amelogenesis Imperfecta: An Inherited Dental Disease of the Italian Greyhound

The Italian greyhound (IG) is a wonderful breed. As a true greyhound, the IG is happiest when provided an opportunity to exercise frequently. However, in their down time IGs are just as content laying on the couch with their human family. Their sweet demeanor combined with easy grooming has made this breed desirable to many. Unfortunately however, like most pure bred dogs, the IG can develop a handful of inherited diseases that make life a challenge for the breed and those that love them.

It isn’t a secret among IG aficionados that one of the biggest health concerns for the breed is their oral health. Though the exact reason is yet to be fully understood, it is not uncommon for IGs to develop early-onset dental disease resulting in significant problems in early adulthood. Though a commitment to daily tooth brushing can help prevent many dental issues, there is also an inherited dental disease in IGs that can now be eliminated through genetic testing of dams and sires prior to breeding!

In the “Health Concerns” section of the Italian Greyhound Club of America website, there is a discussion about “a condition in IG's where the teeth are small ...

To Breed or Not to Breed, That is the Question

To Breed or Not to Breed, That is the Question

At Paw Print Genetics, we are often asked about a common scenario, “My bitch is about ready to whelp and I just found out that her half-sister carries this horrible genetic disease. What should I do?”. Our answer is always the same. Follow these simple steps to avoid this situation while saving you time, money and anguish in the future:

1. Test your dam and sire with the breed-specific panel before you breed. 

Performing a complete, breed-specific panel on your dam and sire will help you make an informed decision to breed or not to breed.

Testing first the dam and sire with an entire panel also saves money in the long run by reducing the need to test their future puppies. This is because puppies will be clear for a disease if both tested parents are also clear for that disease. Therefore, the puppies sold as future breeding stock will only need to be tested for any disease-causing mutations found in the parents. If both parents are clear of all disease-causing mutations, no testing of the puppies is necessary.

2. Test your new puppy with the entire breed-specific panel before you buy.

Introducing a new dog into ...

Understanding complex inherited diseases in your dog

Understanding complex inherited diseases in your dog

When we look at the vast majority of genetic tests currently available for canine inherited diseases, we find a large number of diseases that can be predictably diagnosed with our current technology. For most of the available canine genetic tests, dog breeders understand that there are three commonly used designations applied to a dog for any given inherited disease; normal, carrier or affected. By knowing the way a disease is inherited (recessive vs dominant vs X-linked) and the number of copies of a mutation present in an individual, genetic testing laboratories like Paw Print Genetics can give predictable information about these diseases because they have a clear, 100% correlation between the cause and the illness. 

Unfortunately for dog breeders, inheritance is not always as clear cut as a simple recessive or dominant pattern. In fact, the diseases with a clear-cut inheritance pattern likely only make up a small percentage of the diseases with inherited components. Some of the most frustrating diseases for dog breeders and geneticists are those which pose an increased risk by the combined effects of multiple genetic mutations and/or environmental conditions. In these multifactorial diseases, rather than a 100% correlation between a singular genetic mutation ...

Why do genetic testing in your dog?

Why do genetic testing in your dog?

Bringing a new puppy into the family is a financial and emotional investment.  Once the kids fall in love with that new puppy, there is no turning back, no matter what might happen.  Whether you are a professional dog breeder or simply a careful buyer, genetic testing can help you understand the potential genetic threats to your dog’s health. It will also inform you of potential inherited diseases that may get passed on if you decide to breed. By testing both the dam and sire, this information will help you select the proper mate to produce the healthiest puppies thereby increasing the value of your breeding program.  If both the dam and sire are clear, all of the puppies will be clear by parentage. Thus, those that are diligent about testing will save money over time. However, every time a new dog is brought into a breeding program, that dog should be screened for all known disease mutations to make sure you are not introducing new mutations into your lines.

Paw Print Genetics was founded by geneticists and veterinarians committed to quality genetic testing and outstanding customer service. Paw Print Genetics offers the largest selection of tests ...

Degenerative Myelopathy: Should you be concerned for your breed?

Degenerative Myelopathy: Should you be concerned for your breed?

Degenerative myelopathy (DM) can be a devastating disease. Some breeds with this disease will lose the ability to walk in their later years – certainly after the age most dogs are bred. The mutation has been found in more than 120 breeds (1), which indicates that the original mutation might have occurred hundreds or thousands of years before many of the modern dog breeds emerged.

However, the frequency of the mutation varies between breeds and certainly the risk of developing the clinical disease seems quite distinct and breed-specific. For example, the frequency of carriers and homozygous mutation (affected) dogs in the Kerry blue terrier is about 52%(1), while carriers and affected dogs make up 91% of Pembroke Welsh corgis in Japan(2). Although wire fox terriers have a similar combined carrier and at-risk frequency of 90%, none have ever developed the clinical signs of DM(3).

In a 2001 study by Moore et al., German shepherd dogs had nearly twice the risk for death associated with spinal cord diseases, compared with Belgian shepherd dogs among military dogs(4).  Although we don’t know for sure if the spinal cord disease was DM, certainly DM is one of the more common causes of this ...

Inherited Diseases of the Beagle

Inherited Diseases of the Beagle

It’s easy to see why the beagle has been ranked near the top of AKC registered dog breeds since their acceptance in to the AKC registry in 1885.  Their amiable personality, fantastic sense of smell, and natural talent as a hunter and guard dog have kept them popular with American dog lovers for the past 130 years. Unfortunately, like most popular, purebred dog breeds, particular inherited diseases can make life tough for some beagle blood lines. Luckily, the genetic cause of some of the beagle’s known inherited diseases have been discovered. Thus, allowing laboratories such as Paw Print Genetics to develop genetic tests that allow for the elimination of these disorders through informed selective breeding. The following genetic tests are available at Paw Print Genetics:

Musladin-Lueke Syndrome

One of the largest inherited disease concerns for beagle breeders is a disease known as Musladin-Lueke Syndrome (MLS). MLS is listed on the Canine Health Information Center (CHIC) as a required test for the beagle and is typically identified in affected puppies by 2 to 3 weeks of age. MLS is a connective tissue disease that causes stiff, contracted joints, and inelastic skin giving affected dogs a characteristic tip-toe walk described as ...

Inherited Diseases of the Border Collie

Inherited Diseases of the Border Collie

If you are a dog owner that values intelligence and obedience above all else when choosing a dog, it’s likely you are familiar with the border collie. This hardworking canine breed who received its name from its likely place of origin along the border of England and Scotland, has historically been bred for working ability above all and is widely regarded as one of the most intelligent breeds in the world. Though generally considered a relatively healthy breed, like other purebred dog breeds, the border collie is known to inherit several genetic diseases; some of which are known to be caused by specific genetic mutations. Discovery of the specific mutations responsible for genetic diseases allow laboratories like Paw Print Genetics to develop tests to identify dogs that carry the mutation. This information allows breeders to selectively breed these carrier dogs to dogs that are clear of the mutation in order to avoid producing puppies with these diseases. Three specific inherited diseases are listed on the Canine Health Information Center (CHIC) website as optional recommended tests for the border collie. Testing for these diseases is available from Paw Print Genetics:

Collie Eye Anomaly

One of the biggest inherited disease concerns for ...