United States
Australian Shepherd Association

United States
Australian Shepherd Association

Health & Genetics

The Health & Genetics Program supports USASA’s objective to promote the long-term health and well-being of purebred Australian Shepherds by educating owners; providing information resources for breeders; sponsoring health clinics and supporting targeted research financially and with sample drives.

Healthy Aussies

Like all breeds, Aussies have their health problems. USASA supports our breeders and encourages testing, certifications and open dialogue regarding these issues. As science has advanced, more and more genetic tests are becoming available to identify health issues, and breeders are using these tests in their breeding programs. Breeders have tools for testing, reporting and tracking the health of their breeding dogs.

The most common health issues for Aussies include:

ISSUETESTING METHOD IMPACTMORE INFO
Hip Dysplasia X-raysA condition of the hip joint in which the bones are not properly formed. It results in a loose hip socket to thighbone connection causing hip pain and lameness ranging from mild to crippling.Orthopedic Foundation for Animals (OFA)
PennHIP
Elbow Dysplasia X-raysA condition of the elbow joint in which the bones are not properly formed. It results in a loose elbow connection causing pain and lameness ranging from mild to crippling.Orthopedic Foundation for Animals (OFA)
Hereditary Eye DefectsEye exam by a certified veterinarian ophthalmologist and genetic test for cataractAussies can inherit a number of eye defects which impair vision in varying degrees or cause complete blindness. They include ocular coloboma, iris coloboma, juvenile and senior cataracts, detached retina, persistent pupillary membrane, progressive retinal atrophy and distichiasis.Canine Eye Registration Foundation (CERF)
Animal Health Trust
Animal Genetics
ASHGI
MDR1 [Multi-drug sensitivity]Cheek SwabSome dog breeds are more sensitive to certain drugs than other breeds. Aussies can have adverse reactions to drugs such as ivermectin and loperamide (Imodium). Drug sensitivities result from a mutation in the multi-drug resistance gene (MDR1). Dogs with the mutant gene cannot pump some drugs out of the brain as a normal dog would. The result may be an illness requiring an extended hospital stay - or even death.other breeds. Aussies can have adverse reactions to drugs such as ivermectin and loperamide (Imodium). Drug sensitivities result from a mutation in the multi-drug resistance gene (MDR1). Dogs with the mutant gene cannot pump some drugs out of the brain as a normal dog would. The result may be an illness requiring an extended hospital stay - or even death.Paw Print Genetics - The Definitive Resource for Canine Genetic Health
Collie Eye Anomaly (CEA)Blood testCollie Eye Anomaly (CEA), also known as choroidal hypoplasia (CH), is an inherited disease affecting several dog breeds including the Australian shepherd. The choroid is the layer of tissue in the eye responsible for supplying blood and nutrients to the Retina. In dogs affected with CEA, the choroid does not develop properly and is therefore thinner than normal.Paw Print Genetics - The Definitive Resource for Canine Genetic Health
Degenerative Myelopathy (DM)Cheek SwabDegenerative Myelopathy caused by Mutation of the SOD1 gene is an inherited neurologic disorder of dogs. This mutation is found in many breeds of dog, including the Australian shepherd. While it is not clear for some of the other breeds, Australian shepherds are known to develop degenerative myelopathy associated with this mutation. The variable presentation between breeds suggests that there are environmental or other genetic factors responsible for modifying disease expression. The average age of onset for dogs with degenerative myelopathy is approximately nine years of age. The disease affects the White Matter tissue of the spinal cord and is considered the canine equivalent to amyotrophic lateral sclerosis (Lou Gehrig’s disease) found in humans. Affected dogs usually present in adulthood with gradual muscle Atrophy and loss of coordination typically beginning in the hind limbs due to degeneration of the nervesPaw Print Genetics - The Definitive Resource for Canine Genetic Health
Hereditary Cataracts (HSF4)Cheek SwabHereditary cataracts (Australian shepherd type) is an inherited eye disease affecting Australian shepherds. Cataracts are opacities in the lens of the eye caused by structural changes in lens proteins. A normal lens allows light to pass through it to the Retina in the back of the eye. Light cannot pass through the parts of the lens affected by cataracts and vision becomes blurry. Dogs with hereditary cataracts (Australian shepherd type) most commonly present between 2 to 7 years of age with small cataracts that are visible on a veterinary eye exam. In dogs that inherit one copy of the Mutation, cataracts develop slowly and on rare occasion, may lead to complete blindness. However, it has been speculated that dogs carrying two copies of the mutation are more likely to develop a more rapidly progressing and severe Cataract.Paw Print Genetics - The Definitive Resource for Canine Genetic Health
Hyperuricosuria (HUU)Cheek SwabHyperuricosuria is an inherited condition affecting Australian Shepherds. The SLC2A9 gene codes for a protein that allows the kidneys to transport uric acid from the urine. Dogs with mutations in both copies of the SLC2A9 gene are predisposed to have elevated levels of uric acid in the urine, hence the name hyperuricosuria. Uric acid can form crystals and/or stones (uroliths) in the urinary tract. Dogs with hyperuricosuria most commonly present with symptoms of recurrent urinary tract inflammation, which include frequent urination, blood in the urine, and straining to urinate.Paw Print Genetics - The Definitive Resource for Canine Genetic Health
Intestinal cobalamin malabsorption (Australian Shepherd type – IGS)Cheek SwabIntestinal cobalamin malabsorption (Australian shepherd type) is an inherited disease affecting Australian shepherds. Affected dogs are unable 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 have an increase in certain proteins in their urine, and have decreased synthesis of blood cells resulting in Anemia and decreased numbers of neutrophils.Paw Print Genetics - The Definitive Resource for Canine Genetic Health
Progressive Retinal Atrophy (PRA)Cheek SwabProgressive retinal Atrophy, progressive Rod-cone degeneration (PRA-prcd) is a late onset, inherited eye disease affecting Australian Shepherds. PRA-prcd occurs as a result of degeneration of both rod and cone type Photoreceptor Cells of the Retina, which are important for vision in dim and bright light, respectively. Evidence of retinal disease in affected dogs can first be seen on an Electroretinogram around 1.5 years of age for most breeds, but most affected dogs will not show signs of vision loss until 3 to 5 years of age or later. The rod type cells are affected first and affected dogs will initially have vision deficits in dim light (night blindness) and loss of peripheral vision.Paw Print Genetics - The Definitive Resource for Canine Genetic Health
Multifocal Retinopathy 1 (CRM1)Cheek SwabMultifocal Retinopathy 1 is an inherited disorder of the Retina affecting Australian Shepherds. Affected dogs typically present between 11 and 16 weeks of age with multiple discrete circular areas of retinal detachment with underlying fluid accumulation that are visible on an eye exam performed by a veterinarian. These blister-like lesions are typically found in both eyes and can appear gray, tan, orange or pink and vary in number, size and locationPaw Print Genetics - The Definitive Resource for Canine Genetic Health
Intestinal cobalamin malabsorption (border collie type – IGS)Cheek SwabIntestinal cobalamin malabsorption (border collie type) is an inherited disease affecting dogs. Affected dogs are unable 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) from as early as 14 weeks of age, 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.Paw Print Genetics - The Definitive Resource for Canine Genetic Health
Pelger-Huet Anomaly (PHA)Blood SmearPelger-Huet Anomaly is more a breeder’s problem than an owner’s as puppies with two copies of the PHA gene almost never survive. PHA may cause small litters or loss of newborns. Litter sizes vary normally with the average for Aussies being around 7 pups. Whatever the number of embryos produced by a mating between two PHA-positive dogs, a quarter will not survive. The condition is inherited as an incomplete dominant. Dogs with only one gene are almost always healthy, but if bred to another carrying the mutation the pups that receive two copies of the PHA gene will be reabsorbed, stillborn or die shortly after birth. Occasionally a puppy will survive but have severe skeletal deformities and be susceptible to infection. Because this an anomaly, two negative parents can still produce a positive. This is not a genetic that can be determined clear via parentage.Paw Print Genetics - The Definitive Resource for Canine Genetic Health

Additional H&G Information

AKC/Canine Health Foundation have created the Canine Health Information Center (CHIC) and certification for tracking the results of certain health tests. For Aussies, the mandatory tests for certification are: hip & elbow OFA evaluation and eye evaluation. Optional testing includes autoimmune thyroiditis, Collie Eye Anomaly and Multiple Drug Sensitivity.

USASA Sponsored Health Clinic

This annual clinic, held in conjunction with the annual USASA National Specialty, is arranged by the H&G Committee who makes the arrangements, organizes the workers and offers a discount to participants due to the volume of samples taken at the event. In addition to these discounts, USASA partners with the USASFoundation in providing subsidies to members for many of the tests.

Please visit the current nationals event page for this year’s offering.

Funded Health Research

USASA has made significant contributions over the years in support of research that will have direct benefits for our breed. The H&G Committee is responsible for making recommendations on research studies that should be supported. USASA’s partner in these efforts is the USASFoundation.

There have been opportunities for USASA to form broad partnerships with other Foundations to advance important research. The prime example is the partnership USASA led, teaming ASHGHI, Toby’s Foundation, and the USASFoundation to help fund Epilepsy Research. The Canine Health Foundation had approved a research grant to Dr. Ned Patterson, University of Minnesota, for approximately $93,000. If the Aussie community raised half the grant, the CHF would match our contribution. This was such a large sum, at the time no one organization could provide the funding, but it was possible if we all worked together. And that is what we did for the benefit of our breed!

In addition to efforts with the USASFoundation, USASA has made the following donations to researchers and studies:

DISEASERESEARCHERSAMOUNT OF GRANT
LymphomaDr. Mathew Breen, NCSU College of Veterinary Medicine$3,000
Non-Hodgkin LymphomaDr. Timothy O’Brien, University of Minnesota$3,000
Epilepsy ResearchDr. Ned Patterson, University of Minnesota$7,440
Angiogenic Phenotype in CancerDr. Jaime Modiano, University of Minnesota$2,000
MDR1 and LymphomaDr. Annette N. Smith, Auburn University$3,500