• All of our breeding stock have been tested through Paw Print genetics to ensure that we are offering you the best, healthiest puppies.
• Our Merle testing is conducted through Tilia laboratories.
• Many of our kids have had OFA testing completed with others scheduled for more this fall.

READ ON FOR ADDITIONAL DETAILED INFORMATION ABOUT WHAT WE TEST FOR AND WHY!              The following information is from Paw Print Genetics.

Progressive Retinal Atrophy, Progressive Rod-Cone Degeneration:

Other Names: PRA-PRCD, PRCD

Inheritance: Autosomal Recessive

Common Symptoms:

Progressive retinal Atrophy, progressive Rod-cone degeneration (PRA-prcd) is a late onset, inherited eye disease affecting Miniature 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. Over time affected dogs continue to lose night vision and begin to show visual deficits in bright light. Other signs of progressive retinal atrophy involve changes in reflectivity and appearance of a structure behind the retina called the Tapetum that can be observed on a veterinary eye exam. Although there is individual and breed variation in the age of onset and the rate of disease progression, the disease eventually progresses to complete blindness in most dogs. Other inherited disorders of the eye can appear similar to PRA-prcd. Genetic testing may help clarify if a dog is affected with PRA-prcd or another inherited condition of the eye.

Breed-Specific Information for the Australian Shepherd

The Mutation of the PRCD gene associated with progressive retinal Atrophy, progressive Rod-cone degeneration has been identified in Australian Shepherds, although its overall frequency in this breed is unknown.

Collie Eye Anomaly:

Other Names Choroidal hypoplasia, CEA, CH

Inheritance: Autosomal Recessive with Variable Expressivity

Common Symptoms:

Collie 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. The severity of the condition can vary from dog to dog. In mild cases, affected dogs may only show signs of collie eye anomaly on eye exam between about 5 and 12 weeks of age, just prior to normal, age-related pigmentation of the retina which often masks the characteristic, disease-related changes. After this time period, mildly affected dogs may be impossible to distinguish from normal dogs on eye exam (a phenomenon often referred to as “going normal”) and may not display obvious vision deficits. In more severely affected dogs, clinical signs include malformations of the eye and/or optic nerve (colobomas), retinal detachment, intraocular bleeding, and subsequent blindness. Both mild and severe forms of CEA are associated with the same NHEJ1 gene Mutation. Therefore, predicting the potential severity of the disease in an affected puppy is difficult as mildly affected parents may produce offspring that are severely affected.

Breed-Specific Information for the Australian Shepherd

The Mutation of the NHEJ1 gene associated with collie eye anomaly has been identified in the Australian shepherd. Though the frequency of the gene mutation in the overall Australian shepherd population is unknown, in one study of 223 Australian Shepherd dogs from Australia, 4% were found to be affected with collie eye anomaly.

Degenerative Myelopathy:

Other Names: Canine degenerative myelopathy, DM

Inheritance: Autosomal Recessive with Incomplete Penetrance

Common Symptoms:

Degenerative 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 nerves. The condition is not typically painful for the dog, but will progress until the dog is no longer able to walk. The gait of dogs affected with degenerative myelopathy can be difficult to distinguish from the gait of dogs with hip dysplasia, arthritis of other joints of the hind limbs, or intervertebral disc disease. Late in the progression of disease, dogs may lose fecal and urinary continence and the forelimbs may be affected. Affected dogs may fully lose the ability to walk 6 months to 2 years after the onset of symptoms. Affected medium to large breed dogs, such as the Australian shepherd, can be difficult to manage and owners often elect euthanasia when their dog can no longer support weight in the hind limbs.

Breed-Specific Information for the Australian Shepherd

The Mutation of the SOD1 gene associated with degenerative myelopathy has been identified in the Australian shepherd. The overall frequency of this disease in the breed and approximate age of disease onset is unreported for the Australian shepherd. However, in one study of 113 Australian shepherds tested, 17.7% were carriers of the mutation and 31.9% were at-risk/affected.

Hereditary Cataracts:

Other Names: Early onset cataracts, juvenile cataracts, HC, HSF4, JC

Inheritance: Autosomal Dominant with Incomplete Penetrance

Common Symptoms:

Hereditary 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.  Of note, not all forms of cataracts are inherited and environmental factors such as UV damage can also play a role in the severity of disease. This specific mutation in the HSF4 gene shows Incomplete Penetrance, meaning that not all dogs inheriting two copies of the mutation develop clinical disease. This suggests that other unknown genetic or environmental factors may play a role in modifying disease development and progression.

Breed-Specific Information for the Australian Shepherd

The Mutation of the HSF4 gene associated with hereditary cataracts (Australian shepherd type) has been identified in the Australian shepherd. Though the overall frequency in the Australian shepherd population is unknown, in one study of 392 Australian shepherds with and without cataracts from North America and Europe, 25.5% had one copy of the mutation and 3.8% had two copies of the mutation, with an overall frequency of at risk dogs of 29.3%. In this same study, Australian shepherds with this mutation had an approximately 17-fold increased risk of developing cataracts.

Hyperuricosuria:

Other Names: Urolithiasis, HUU

Inheritance: Autosomal Recessive

Common Symptoms:

Hyperuricosuria 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. They may also have loss of appetite, lethargy, weakness, vomiting and pain. Urinary stones in the bladder can cause urinary tract infections or more seriously, blockage of the Urethra. Both male and female dogs can be affected, but obstruction of urine flow is more common in males due to differences in anatomy. Although an x-ray can be used to exclude other types of stones, urate stones cannot typically be seen using x-rays and must be evaluated by ultrasound. Not all dogs with mutations in both copies of the SLC2A9 gene will have symptoms of disease, though they will have increased uric acid excretion in the urine.

Breed-Specific Information for the Australian Shepherd

The Mutation of the SLC2A9 gene associated with hyperuricosuria has been identified in Australian Shepherds. Though the exact frequency in the overall Australian Shepherd population is unknown, based on 142 Australian Shepherds tested, 3.46 % of Australian Shepherds in the United States are estimated to be carriers of the mutation and 0.03% are estimated to be at-risk for hyperuricosuria.

Intestinal Cobalamin Malabsorption (Australian Shepherd Type):

Other Names: Amnionless Deficiency, Cobalamin Deficiency, Imerslund-Grasbeck Syndrome, Vitamin B12 Deficiency.

Inheritance: Autosomal Recessive

Common Symptoms:

Intestinal 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. Affected dogs require cobalamin supplementation for life that results in disease remission for most animals within a few weeks. Though not associated with clinical disease, affected dogs will continue to pass increased amounts of certain proteins in the urine even with cobalamin supplementation.

Breed-Specific Information for the Australian Shepherd

The Mutation of the AMN gene associated with intestinal cobalamin malabsorption (Australian shepherd type) has been identified in the Australian shepherd, although its overall frequency in this breed is unknown.

Intestinal Cobalamin Malabsorption (Border Collie Type):

Other Names: Cobalamin deficiency, Cubilin deficiency, Imerslund-Grasbeck syndrome, I-GS

Inheritance: Autosomal Recessive

Common Symptoms:

Intestinal 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. 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. Affected dogs require cobalamin supplementation for life that results in disease remission for most animals within a few weeks. Though not associated with clinical disease, affected dogs will continue to pass increased amounts of certain proteins in the urine even with cobalamin supplementation.

Multidrug Resistance 1:

Other Names: Ivermectin sensitivity, MDR1 gene defect, Multidrug sensitivity, MDR1

Inheritance: Autosomal Incomplete Dominant

Common Symptoms:

Multidrug Resistance 1, also called MDR1, is an inherited condition affecting several breeds of dogs, especially herding dogs such as the Australian shepherd. The Mutation in the ABCB1 gene associated with MDR1 causes dysfunction of P-glycoprotein, which is responsible for removing certain drugs and toxins from the body. Clinical signs are most commonly associated with distribution of the drug in the central nervous system. MDR1 is inherited in an autosomal incomplete dominant manner in dogs meaning that dogs only need to inherit one copy of the mutated gene to be at an increased risk of developing adverse reactions to certain medications. Though adverse reactions to certain drugs are most commonly seen in dogs having two copies of the mutated gene, Carrier dogs can also experience drug sensitivities and dosages need to be adjusted accordingly. Thus, dogs that have one or two copies of the mutation are considered at-risk for adverse drug reactions. If an at-risk dog is treated with one of several common drugs (see below*), they are at risk of developing neurologic symptoms that could range from tremors, excess salivation, anorexia, and blindness to coma and even death. Because of the defective ability to metabolize specific drugs, these drugs can be lethal even at low doses. The MDR1 mutation does not cause adverse effects in dogs unless the dog is exposed to these drugs. Therefore, veterinarians should be notified when a dog is at risk for multidrug resistance 1 prior to administration of any medications.

*Drugs known to cause neurological signs related to the MDR1 mutation: Acepromazine, butorphanol, doxorubicin, emodepside, erythromycin, ivermectin, loperamide, milbemycin, moxidectin, rifampin, selamectin, vinblastine and vincristine

In addition to this list, there are many other drugs known to be removed from the central nervous system via the P-glycoprotein mechanism in humans. However, reports of neurological dysfunction related to drugs other than those listed here are scarce in dogs. Please consult your veterinarian when giving drugs to known multidrug resistance carriers, affected dogs, or untested dogs of breeds commonly affected with this condition.

Breed-Specific Information for the Australian Shepherd

The Mutation of the ABCB1 gene associated with multidrug resistance 1 has been identified in the Australian shepherd. Though the exact frequency in the overall Australian shepherd population is unknown, in North America 37% out of 1,421 Australian shepherds had one copy of the mutation and 10% had two copies of the mutation, with an overall frequency of at risk dogs of 47%. In Europe, 48% out of 907 Australian shepherds had one copy of the mutation and 11% had two copies of the mutation, with an overall frequency of at risk dogs of 59%. Worldwide, the percentage of Australian shepherds which inherited one copy of the mutation ranged from 25% to 44% and the percentage of the breed which inherited two copies of the mutation associated with MDR1 ranged from 10% to 25%.

Multifocal Retinopathy 1:

Other Names: Canine multifocal retinopathy 1, CMR1

Inheritance: Autosomal Recessive

Common Symptoms:

Multifocal 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 location. Progression of retinal changes is usually slow and new lesions are not noted after 6 to 12 months of age. Occasionally as affected dogs age, lesions appear to heal and are no longer visible on an eye exam. Generally the dog’s vision is not affected although vision loss has been described in some cases of multifocal retinopathy 1.

Breed-Specific Information for the Australian Shepherd

The Mutation of the BEST1 gene associated with multifocal retinopathy 1 has been identified in Australian Shepherds, although its overall frequency in this breed is unknown.

***All genetic information is taken from https://www.pawprintgenetics.com/products/breeds/33