Genetics Explained

The genetic tests listed below are for the Australian Shepherd to screen out common genetic disorders that affect this breed. This means that these tests are for issue's known to affect the breed. Only buy from a breeder who agrees to include copies of the parents health clearances with your paperwork.  Just taking someone's word that the testing has been done and the parents are in good health and produce puppies that are in good health is not acceptable. THERE ARE MANY BREEDERS WHO WILL TELL YOU WHAT YOU WANT TO HEAR JUST TO MAKE THE SALE. 

CEA (Collie Eye Anomaly)

www.eurovetgene.com/index.php/en/home/dog-tests/test-list/collie-eye-anomaly

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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.

Genetic testing of the NHEJ1 gene in Australian shepherds will reliably determine whether a dog is a genetic Carrier of Collie Eye Anomaly. Collie Eye Anomaly is inherited in an Autosomal Recessive manner in dogs meaning that they must receive two copies of the mutated gene (one from each parent) to develop the disease. In general, carrier dogs do not have features of the disease but when bred with another carrier of the same Mutation, there is a risk of having affected pups. Each pup that is born to this pairing has a 25% chance of inheriting the disease and a 50% chance of inheriting one copy and being a carrier of the NHEJ1 gene mutation. Reliable genetic testing is important for determining breeding practices. In order to eliminate this mutation from breeding lines and to avoid the potential of producing affected pups, breeding of known carriers to each other is not recommended. Australian shepherds that are not carriers of the mutation have no increased risk of having affected pups.

CMR1 (Canine Multifocal Retinopathy Type 1) http://animalgenetics.com/Canine/Genetic_Disease/CMR1.asp

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.

Genetic testing of the BEST1 gene in Australian Shepherds will reliably determine whether a dog is a genetic Carrier of multifocal retinopathy 1. Multifocal Retinopathy 1 is inherited in an Autosomal Recessive manner in dogs meaning that they must receive two copies of the mutated gene (one from each parent) to develop the disease. In general, carrier dogs do not have features of the disease but when bred with another carrier of the same Mutation, there is a risk of having affected pups. Each pup that is born to this pairing has a 25% chance of inheriting the disease and a 50% chance of inheriting one copy and being a carrier of the BEST1 gene mutation. Reliable genetic testing is important for determining breeding practices. Because visual deficits are generally not noted and lesions can regress as affected dogs age, genetic testing should be performed before breeding. In order to eliminate this mutation from breeding lines and to avoid the potential of producing affected pups, breeding of known carriers to each other is not recommended. Australian Shepherds that are not carriers of the mutation have no increased risk of having affected pups.

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DM (Degenerative Myelopathy) http://animalgenetics.com/Canine/Genetic_Disease/DM.asp

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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.

Genetic testing of the SOD1 gene in Australian shepherds will reliably determine whether a dog is a genetic Carrier of degenerative myelopathy. Degenerative Myelopathy is inherited in an Autosomal Recessive manner in dogs meaning that they must receive two copies of the mutated gene (one from each parent) to develop the disease. In general, carrier dogs do not have features of the disease but when bred with another carrier of the same Mutation, there is a risk of having affected pups. Each pup that is born to this pairing has a 25% chance of inheriting the disease and a 50% chance of inheriting one copy and being a carrier of the SOD1 gene mutation. Reliable genetic testing is important for determining breeding practices. Because symptoms may not appear until adulthood and some at-risk/affected dogs do not develop the disease, genetic testing should be performed before breeding. Until the exact modifying environmental or genetic factor is determined, genetic testing remains the only reliable way to detect neurological disease associated with this mutation prior to death. In order to eliminate this mutation from breeding lines and to avoid the potential of producing affected pups, breeding of known carriers to each other is not recommended. Australian shepherds that are not carriers of the mutation have no increased risk of having affected pups.

HSF4 (Hereditary Cataracts) http://animalgenetics.com/Canine/Genetic_Disease/HC.asp

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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% were carriers of the mutation and 3.8% had two copies of the mutation. In this same study, Australian shepherds with this mutation had an approximately 17-fold increased risk of developing cataracts.

Genetic testing of the HSF4 gene in Australian shepherds will reliably determine whether a dog is a genetic Carrier of hereditary cataracts (Australian shepherd type). Hereditary cataracts (Australian shepherd type) is inherited in an Autosomal Dominant manner in dogs meaning that dogs only need to inherit one copy of the mutated gene to be at-risk for the disease. Dogs that inherit two copies of the genetic Mutation are at-risk of developing a more severe form of the disease. Each pup that is born to a parent carrying one copy of the mutation has a 50% chance of inheriting one copy of the HSF4 gene mutation and being at-risk for the disease. If both parents are affected, the chance of having affected offspring increases to 75-100%. Because symptoms may not appear until adulthood and not all dogs with the mutation develop disease, genetic testing should be performed before breeding. Reliable genetic testing is important for determining breeding practices. In order to eliminate this mutation from breeding lines and to avoid the potential of producing affected pups, breeding of known carriers is not recommended. Australian shepherds that are not carriers of the mutation have no increased risk of having affected pups due to this mutation.

HUU (Hyperuricosuria) http://animalgenetics.com/Canine/Genetic_Disease/HUU.asp

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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.

Genetic testing of the SLC2A9 gene in Australian Shepherds will reliably determine whether a dog is a genetic Carrier of hyperuricosuria. Hyperuricosuria is inherited in an Autosomal Recessive manner in dogs meaning that they must receive two copies of the mutated gene (one from each parent) to develop the disease. In general, carrier dogs do not have features of the disease but when bred with another carrier of the same Mutation, there is a risk of having affected pups. Each pup that is born to this pairing has a 25% chance of inheriting the disease and a 50% chance of inheriting one copy and being a carrier of the SLC2A9 gene mutation. Reliable genetic testing is important for determining breeding practices. Because not all affected dogs will have clinical signs associated with hyperuricosuria, genetic testing should be performed before breeding. In order to eliminate this mutation from breeding lines and to avoid the potential of producing affected pups, breeding of known carriers to each other is not recommended. Australian Shepherds that are not carriers of the mutation have no increased risk of having affected pups.

MDR1 (Multidrug Resistency) http://animalgenetics.com/Canine/Genetic_Disease/MDR1.asp 

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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 were carriers and 10% were at-risk. In Europe, 48% out of 907 Australian Shepherds were carriers and 11% were at-risk. Worldwide, the percentage of carriers ranges from 25% to 44% and the percentage of Australian Shepherds at-risk for MDR1 ranges from 10% to 25%.

Genetic testing of the ABCB1 gene in Australian Shepherds will reliably determine whether a dog is a genetic Carrier of multidrug resistance 1. Multidrug Resistance 1 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 the disease. 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 mutant copies of the gene are considered at-risk for adverse drug reactions. When carriers of this Mutation are bred with another dog that also is a carrier of the same mutation, there is risk of having affected pups. For each pup that is born to this pairing, there is a 25% chance that the puppy will inherit two copies of the mutation and a 50% chance that the puppy will inherit one copy of the mutation and, in either case, may be susceptible to having adverse drug reactions. Reliable genetic testing is important for determining breeding practices. Because symptoms do not appear unless dogs are exposed to certain drugs, genetic testing should be performed before breeding. Australian Shepherds that are not carriers of the mutation have no increased risk of having affected pups when bred to a dog that is also clear for this mutation.

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MDR1 is Multidrug Resistance which means Ivermectin products should only be administered in correct doses for flea and tick control, heartworm prevention, or as a dewormer. There are many other quality products on the market to use for the treatment and prevention of these parasites. There are also drugs on the drug sensitivity list that MDR1 affected dogs can have a reaction to. THIS IS WHY WE TEST AND SEND ALERTS HOME FOR THE BUYER AND THEIR VETS WHEN MDR1 STATUS IS, OR HAS A CHANCE OF BEING, ANYTHING BUT CLEAR. We will never cut a dog from our breeding program for MDR1. This test is simply a "need to know" kind of test and one the vets appreciate having for their records over the lifetime of the puppies.

PRCD is Progressive Rod Cone Degeneration which causes PRA Progressive Retinal Atrophy PRCD/PRA  https://www.eurovetgene.com/index.php/en/home/dog-tests/test-list/progressive-retinal-atrophy 

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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.

Genetic testing of the PRCD gene in Australian Shepherds will reliably determine whether a dog is a genetic Carrier of PRA-prcd. PRA-prcd is inherited in an Autosomal Recessive manner in dogs meaning that they must receive two copies of the mutated gene (one from each parent) to develop the disease. In general, carrier dogs do not have features of the disease but when bred with another carrier of the same Mutation, there is a risk of having affected pups. Each pup that is born to this pairing has a 25% chance of inheriting the disease and a 50% chance of being a carrier of the PRCD gene mutation. Reliable genetic testing is important for determining breeding practices. Because symptoms do not appear until adulthood, genetic testing should be performed before breeding. In order to eliminate this mutation from breeding lines and to avoid the potential of producing affected pups, breeding of known carriers to each other is not recommended. Australian Shepherds that are not carriers of the mutation have no increased risk of having affected pups. 

This is a simple diagram to educate those who may need further understanding of how inherited genetic traits work.

As you can see, ALL puppies from 2 parents with n/n tests are also n/n because a puppy cannot get a gene that a parent does not have to offer so there is no way a puppy with 2 n/n parents can have an affected gene. These tests are done by a DNA swab and are 100% accurate, providing the sample was swabbed correctly without contamination of another dog or human, as DNA cannot be changed or falsified in any way. This is a yes or no test, black and white, with ZERO gray area. They either have it or they don't and a dog cannot "grow" a new affected gene later in life.

This is why all buyers of our puppies are provided with their parent dogs results so there is NO confusion and NO guesswork.