Tag archives: canine genetic disease testing

Skeletal Dysplasia 2 and Retinal Dysplasia/Oculoskeletal Dysplasia 1 in the Labrador retriever

Skeletal Dysplasia 2 and Retinal Dysplasia/Oculoskeletal Dysplasia 1 in the Labrador retriever

In this second part of a four part blog series examining preventable inherited diseases of the Labrador retriever (see part one here) we will be examining two diseases known to cause dwarfism in the breed.

Skeletal Dysplasia 2

Skeletal dysplasia 2 (SD2) is an inherited disease of collagen resulting in disproportionate dwarfism in the Labrador. Disproportionate dwarfism is marked by abnormal size discrepancies between the limb length of affected individuals and the size of their torso. In the case of SD2, the limbs of affected dogs tend to be shorter than normal despite an average sized torso. International breed standards of the Labrador list shoulder heights of 56-57 cm in males and 54-56 cm in females. In the publication describing the COL11A2 gene mutation associated with SD2, the authors found that most of the affected males had shoulder heights of less than 55 cm and most affected females showed heights of less than 50 cm. However, there is some overlap of shoulder heights between those of normal dogs from blood lines of smaller size and affected dogs from larger sized blood lines. Though the front limbs tend to be more severely affected (and sometimes slightly bowed) with SD2, the long ...

Paw Print Genetics Partnerships

Paw Print Genetics Partnerships

Paw Print Genetics partners with a number of different organizations. In many cases, the organization comes to us wanting help in providing members with educational materials on genetics to promote genetic testing among their members. In other cases, we see a need in an organization for better education and we want better visibility to their membership.  In either case, our partnerships are limited to providing genetics education when desired, discounts to members to promote testing, and supporting their events with raffle items or prizes, such as gift certificates for free testing. 

You may have noticed that some of the organizations and clubs that we have partnered with may be considered nonconforming in the sense that some are not AKC recognized, nor are they well known.  Some individuals have recently questioned our integrity or intentions with these groups.  In partnering, our only agenda is to promote healthy dogs and genetics education.  We do not have any other agenda.  Paw Print Genetics will accept samples from all dogs, regardless of breed, color, conformity to published standards, registered, rescued or adopted.  We do not discriminate when it comes to promoting genetic testing and healthy dogs.  ...

Degenerative Myelopathy and Centronuclear Myopathy in the Labrador Retriever

Degenerative Myelopathy and Centronuclear Myopathy in the Labrador Retriever

It’s not hard to love a Labrador retriever. Their outgoing, family friendly personality, great rapport with children, receptiveness to training, and their ability to hunt both waterfowl and upland game have made them a highly desirable and well-loved breed. This popularity is reflected by their place at the top of the American Kennel Club’s registration statistics for the past 24 consecutive years.

When adopting or purchasing a new canine family member or hunting companion, we would all like to know that our enormous investments in love, time, and money will see a sizable return. For a family dog, we’d like to know that they will be healthy and live as long as possible. For a hunting or working dog, in addition to a long life, we’d also like to know they will be able to have a long, healthy career performing the specific task for which we’ve prepared them. Though we could never eliminate or predict all disease risks for our dogs, genetic testing technologies have made elimination and prediction of some inherited diseases easier than ever before.

This blog is the first of a four part blog series examining preventable inherited diseases of America’s favorite dog, the Labrador retriever. What ...

Dog Breeds of Irish Origin: Part 2 – Terrier Breeds

Dog Breeds of Irish Origin: Part 2 – Terrier Breeds

In the spirit of the impending annual homage to one of the most widely recognized patron saints of Ireland, St. Patrick, we are taking a look at the wonderful dog breeds of Irish origin and some of the inherited diseases that are reported to affect them. In part one, we discussed dogs developed in Ireland that fall outside the terrier group such as the Irish wolfhound and the Irish setter. In this second blog of the two blog series, we will discuss four terrier breeds gifted from the Emerald Isle to the rest of the world for dog lovers to enjoy!

Kerry Blue Terrier

Like many terrier breeds, the origins of the Irish-bred Kerry blue terrier are closely linked to their abilities in controlling a variety of vermin nuisances. Though not a particularly popular breed in the US (most recently ranked 128th based upon their AKC registration statistics), the Kerry blue is easily recognizable by their characteristic progressive gray (“blue”) wavy to curly coat. Born black, this attractive breed slowly develops their characteristic gray/blue color over their first 2 years of life in a process referred to by breeders as “clearing”. Though variability exists in regards to the ...

Dog Breeds of Irish Origin: Part 1 - Non-terrier Breeds

Dog Breeds of Irish Origin: Part 1 - Non-terrier Breeds

It’s the time of year to break out your green attire, shine up your Claddagh ring, and water your shamrocks because St. Patrick’s Day is upon us! In the spirit of this traditional Irish holiday, it is also time to take a look at some of the dog breeds that the people of Ireland have so graciously developed for the rest of the world’s dog lovers to appreciate. In addition, we will also take a look at some of the inherited diseases reported to affect these breeds and the genetic tests available through Paw Print Genetics. Through the implementation of genetic testing and selective breeding, these diseases can be completely eliminated from any dog breeding program.

Irish Wolfhound

One breed with its roots firmly planted in Irish soil is the Irish wolfhound. One of the most ancient and arguably the most visually striking dog breed of Irish origin, the Irish wolfhound, was originally developed as a fierce hunting companion, military dog, and guard dog. However, the temperament of the modern wolfhound bares little resemblance to ancient descriptions of the ferocious canines known for their selfless bravery in battle. Now much more known for their quiet, confident, and introverted demeanor, there ...

Collie Eye Anomaly: The Confusion About “Going Normal”

Collie Eye Anomaly: The Confusion About “Going Normal”

In 1953, a prevalent inherited eye condition of collies was first described by W.G. Magrane in a journal article entitled, “Congenital anomaly of the optic nerve in collies”1. Later termed choroidal hypoplasia by scientists, the disease now known to the general public as collie eye anomaly (CEA) has significantly troubled collie breeders for over 50 years. In 2007, a paper describing a specific genetic mutation of the NHEJ1 gene associated with CEA was published. Identification of this mutation, has made it possible for scientists to develop tests that predictably identify the mutation and subsequently help breeders avoid producing puppies with CEA. Despite its breed specific name, testing has since identified the same CEA associated mutation in several other dog breeds including the Australian shepherd and the Shetland sheepdog.

Though there is significant variability in terms of ocular defects seen in affected dogs, the fundamental characteristics of CEA stem from the malformation of an important structure of the eye known as the choroid. The choroid is a thin layer of tissue containing the blood vessels responsible for supplying blood and nutrients to the retina and other structures of the eye. While mildly affected dogs may maintain normal vision with ...

Myotonia Congenita: A Preventable Inherited Disease of the Miniature Schnauzer

Myotonia Congenita: A Preventable Inherited Disease of the Miniature Schnauzer

From their origins in Germany, the miniature schnauzer and its entertaining, high-spirited personality have endeared them to people all over the world. Originally bred to be an effective, small breed vermin hunter, it is believed that the miniature schnauzer was the product of breeding small breeds like the affenpincher and small poodles with the standard schnauzer. First recognized as an independent breed in the late 19th century, miniature schnauzers have since firmly planted themselves as popular, devoted family members and guard dogs. In 2013, they were ranked 17th in the AKC registration statistics; an indication of their significant popularity in the US. Unfortunately, like other purebred dogs, the miniature schnauzer is reported to inherit some genetic diseases that can prevent them from being the spunky terrier they are otherwise known to be. One such condition is an inherited muscular disease known as myotonia congenita (MC).

MC is a disorder of skeletal muscle caused by a mutation of the CLCN1 gene in which muscles display hyperexcitability and delayed relaxation after contracting. Affected puppies are usually identified when they begin walking due to the presence of a stiff gait resulting in frequent falls. Though the episodes of muscle stiffness do not ...

Polyneuropathy- A Preventable Inherited Disease of the Alaskan Malamute

Polyneuropathy- A Preventable Inherited Disease of the Alaskan Malamute

Throughout human history, people have learned to use a variety of animals to help perform essential tasks in an attempt to make their lives easier. While dogs are often recognized for their skill as hunters or as integral hunting companions in pursuit of a variety of game, one under recognized skill of dogs is as draft animals. While we often associate draft or sled dogs with competitive racing such as the Iditarod or Yukon Quest races, many do not realize that these races were developed from the historical use of dogs as draft animals. One dog breed with significant roots as both a hunting and draft animal is the Alaskan malamute.

Early accounts describe ancestors of the Alaskan malamute being used by the native Alaskan tribe previously known as Mahlemuts. These dogs played a crucial role in helping the tribe succeed in the harsh and unforgiving land of northwestern Alaska by assisting them with hunting and pulling sleds. When gold fever struck the Yukon and Alaska in the 19th century, demand for malamutes and other capable draft dogs increased substantially to assist hopeful prospectors in their quest for a golden fortune. Often confused with the Siberian husky due to ...

Retinal Dysplasia/Oculoskeletal Dysplasia 1 (RD/OSD1): A Preventable Inherited Disease of the Labrador Retriever

Retinal Dysplasia/Oculoskeletal Dysplasia 1 (RD/OSD1): A Preventable Inherited Disease of the Labrador Retriever

Thanks to our loyal and dedicated clients, Paw Print Genetics continues to increase test offerings in 2015! To start our year off right, we released DNA profiling and parentage testing, seven long-awaited canine coat color tests, and four tests for other specific traits of the hair coat and tail. In addition, Paw Print Genetics continues to expand upon the largest canine inherited disease testing menu in North America by releasing 10 new inherited disease tests. One newly added test that will make many Labrador retriever owners happy is the test for an inherited disease known as retinal dysplasia or the more apt term, oculoskeletal dysplasia (often written as retinal dysplasia/oculoskeletal dysplasia 1 or abbreviated, RD/OSD 1). In March of 2014, RD/OSD 1 became a little more personal for Paw Print Genetics when we had the honor of meeting Frank, an adorable, blind RD/OSD 1 affected Labrador retriever living at the Double J Dog ranch in Hauser Lake, Idaho. We are excited to launch a test that allows breeders of sweet dogs like Frank to produce puppies free of this severe and challenging disorder!

RD/OSD 1 is a genetic disease of collagen caused by a mutation ...

Primary Hyperoxaluria: A Preventable Inherited Disease of the Coton de Tulear

Primary Hyperoxaluria: A Preventable Inherited Disease of the Coton de Tulear

There are not many dog breed names that give a more apt description of the breed’s physical appearance than that of the coton de Tulear. Taken from the French word “coton”, meaning cotton, the coton de Tulear’s signature soft white hair (not fur) has long been compared to the fluffy fiber of the cotton plant. According to the Malagasy Coton de Tulear Club of America, the coton de Tulear was developed in Madagascar around the 17th century and is still the official dog of this island nation. Predecessors to the modern coton de Tulear were likely brought to the island by sailors or pirates around this time period. Though they are generally a healthy breed, unfortunately, like other purebred dogs, the coton de Tulear is known to inherit some genetic diseases that can make life challenging for this small, friendly companion and those that love them. One such inherited disease of the coton de Tulear is a severe condition known as primary hyperoxaluria (PH) that occurs due to a mutation in the AGXT gene.

Dogs affected with PH lack the ability to produce an enzyme that plays an essential role in the breakdown of a compound known as glyoxylate ...