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Health testing

What do you need to know ?

Breeders ethical will test their dogs for genetic diseases that are known for their race. Breeders ethical will test their dogs for genetic diseases that are known for their race.
You can see "clear" or "carrier" for each genetic disease listed on the dog. It will be optimal a dog is "clear" for several or all of the genetic diseases, but "carrier" is not dangerous if it is not cross with another dog carrier in the same genetic disease. On the other hand you want never see "affected" in the results. But why should you be worry about that ?
Some of the diseases can affect your dog on it ability to metabolize some drugs, which can be fatal if the status carrier or affected are not known. While else could affect him in growing.
After these tests we know if our dog is good for breeding. This ensures the new families that their dog will be healthy and help prevent bad news about it.


Here the list of genetic diseases recognized for miniature american shepherd...

Need more details ...

Do not hesitate to inquire with associations and organizations that offer testing services to breeders, they are an excellent resource for individuals.  One of the main ones is the attached OFA.

Health diseases

F7

Coagulation factor VII deficiency is an inherited bleeding disorder affecting dogs. Factor VII is an essential protein needed for normal blood clotting. Deficiency of this factor most commonly results in a mild bleeding disorder. An affected dog may bruise easily, have frequent nosebleeds, and exhibit prolonged bleeding after surgery or trauma. In rare cases, the bleeding may be severe. Due to the mild nature of this disorder, affected dogs may not be identified until a surgery is performed or trauma occurs at which time excessive bleeding is noted. Veterinarians performing surgery on dogs that are known to have coagulation factor VII deficiency should have ready access to blood banked for transfusions. Most dogs with this condition will have a normal lifespan despite increased blood clotting times.

CEA

Collie eye anomaly (CEA), also known as choroidal hypoplasia (CH), is an inherited disease affecting several dog breeds. 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.

CD

Cone degeneration 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. Affected dogs have normal vision in low light and structures of the inner eye appear normal on eye exam. Normal cone cell function can be seen on electroretinogram (ERG) before six weeks of age, but becomes abnormal between 6 to 12 weeks of age and is completely absent in affected adult dogs signifying complete loss of cone cells. The cells responsible for vision in low light called rod photoreceptors are not affected and thus, affected dogs will still be able to see normally in low light throughout life.

DM

There may be other causes of this condition in dogs and a normal result does not exclude a different mutation in this gene or any other gene that may result in a similar genetic disease or trait.

HC

Hereditary cataracts (Australian Shepherd type) is an inherited eye disease affecting dogs. 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, sometimes leading 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.

HUU

Hyperuricosuria is an inherited condition of the urinary system affecting several breeds of dog. 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.

MDR1

Multidrug resistance 1, also called MDR1, is an inherited condition affecting several breeds of dogs, especially herding dogs or descendants of herding breeds. 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.


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 prior to giving drugs to known multidrug resistance carriers, affected dogs, or untested dogs of breeds commonly affected with this condition.

CMR1

Multifocal retinopathy 1 is an inherited disorder of the retina affecting several breeds of dog. 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.

NCL6

Neuronal ceroid lipofuscinosis 6 (NCL6) is a lysosomal storage disease affecting dogs. 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.

NCL8

Neuronal ceroid lipofuscinosis 8 (Australian shepherd type) is a lysosomal storage disease affecting dogs. Affected dogs lack a specific enzyme necessary for normal cellular 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. In affected dogs poor vision may be noticed as puppies, but as early as 10-12 months of age symptoms of cognitive decline appear and may include loss of learned behaviors, circling, and pacing. Symptoms progress to blindness, ataxia, behavior changes such as anxiety and aggression, tremors, sensitivity to touch and sound, and seizures by the time the dog is 2 years of age. Affected dogs are typically euthanized due to disease progression.

PRA-PRCD

Progressive retinal atrophy, progressive rod-cone degeneration (PRA-prcd) is a late onset, inherited eye disease affecting many breeds of dog. 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.

VWDI

Von Willebrand’s disease type I (VWDI) is an inherited bleeding disorder affecting many breeds of dog. Dogs affected with VWDI have less than half of the normal level of von Willebrand coagulation factor (VWf), which is an essential protein needed for normal blood clotting. There is variability in the amount of VWf such that not all dogs with two copies of the mutation are equally affected. Dogs that have less than 35% of the normal amount of VWf generally have mild to moderate signs of a bleeding disorder. Affected dogs may bruise easily, have frequent nosebleeds, bleed from the mouth when juvenile teeth are lost, and experience prolonged bleeding after surgery or trauma. Less often, the bleeding may be severe enough to cause death. Due to the variable severity of the disorder, affected dogs may not be identified until a surgery is performed or trauma occurs at which time excessive bleeding is noted. Veterinarians performing surgery on known affected dogs should have ready access to blood banked for transfusions. Most dogs will have a normal lifespan with this condition despite increased blood clotting times.