All of our breeding dogs have had the following DNA tests done by Paw Print Genetics an OFA recognized Genetics lab.
Collie eye anomaly – Aliases: Choroidal hypoplasia, CEA, CH , 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.
Cone degeneration – Aliases: Achromatopsia, Day blindness, Hemeralopia, Rod monochromacy, is an inherited eye disease affecting dogs. Affected dogs develop day blindness (blindness in bright light) and Photophobia (light sensitivity) between 8 to 12 weeks after birth due to degeneration of cells in the eye called cone photoreceptors which are responsible for vision in bright light
Degenerative myelopathy – Aliases: Canine degenerative myelopathy, DM 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.
Hereditary cataracts (Australian Shepherd type) – Aliases: Early onset cataracts, Juvenile cataracts, HC, JC 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
Hyperuricosuria – Aliases: Urolithiasis, HUU 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.
Multidrug resistance 1 – Aliases: Ivermectin sensitivity, MDR1 gene defect, Multidrug sensitivity, MDR1 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. 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
Multifocal retinopathy 1 – Aliases: Canine multifocal retinopathy 1, CMR1 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.
Neuronal ceroid lipofuscinosis 6 – Aliases: Amaurotic idiocy, Batten disease, NCL, NCL6 a lysosomal storage disease affecting Australian Shepherds. Affected dogs lack a specific Enzyme necessary for normal metabolism. As a result, there is an abnormal accumulation of waste compounds primarily in the cells of the nervous system, leading to a range of nervous system disorders. Affected dogs present around 1.5 years of age with progressive neurologic disease. Symptoms include loss of vision, behavioral change, anxiety, lack of muscle coordination and abnormal gait. Affected dogs are often humanely euthanized by 2 years of age due to progression of the disease.
Progressive retinal atrophy, Progressive rod-cone degeneration – Aliases: PRA-PRCD, PRCD 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.
Dilated Cardiomyopathy – An inherited disorder of the heart affecting several breeds of dog. This disease shows Incomplete Penetrance, meaning that not all dogs at risk (those with one or two copies of the Mutation) will develop the disease. In affected dogs, the heart muscle is weak and the chambers become dilated with thin walls. These enlarged hearts have poor contractility and are prone to arrhythmias. Affected dogs present with clinical signs of poor heart function between 1 to 8 years of age.
Hip and elbow x-ray for dysplasia on some dogs. Hip dysplasia is associated with abnormal joint structure and a laxity of the muscles, connective tissue, and ligaments that would normally support the joint. As joint laxity develops, the articular surfaces of the two bones lose contact with each other. This separation of the two bones within the joint is called a subluxation, and this causes a drastic change in the size and shape of the articular surfaces. SLIPPERY FLOORS, OVERWEIGHT AND TOO MUCH HARD EXERCISE AT A YOUNG AGE CAN BE A MAJOR FACTOR IN YOUR PUPPY GETTING DYSPLASIA!