Australian Shepherds, as well as other breeds, have the possibility of inheriting genetic abnormalities and diseases.  The specific risks for many of this breed’s significant health challenges are greatly reduced by completing DNA health testing and clearances.  We begin with screening the parents of each litter before the decision to breed them is even made. Completing health tests and clearances helps us to choose the dogs that are the most physically sound for our breeding program. This breeding program gives us the best chance of producing healthy puppies that will live long, happy lives.

DNA Genetic Test Ratings:  Clear,  Carrier, or Affected.

• CLEAR: The dog posses no copies of the mutant gene for a specific disease.  It will never have the disease or pass it on to any offspring.

• CARRIER:  The dog posses one copy of the mutant gene and one copy of the normal gene. The dog will NOT develop the specific disease.  It should only be bred to dogs “clear” of the same disease to prevent producing dogs affected by the disease.

• AFFECTED: The dog posses two copies of the mutant gene.  The dog will be affected by the disease for it’s entire lifetime. Affected dogs should only be bred to “clear” dog’s to ensure they produce no affected dogs. 

• Collie Eye Anomaly (CEA)   

Other Names: Choroidal hypoplasia, CEA, CHAffected Genes: NHEJ1  

 Inheritance: Autosomal Recessive* with Variable Expressivity**

Genetic testing of the NHEJ1 gene 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. Dogs that are not carriers of the mutation have no increased risk of having affected pups.

• Cone Degeneration (CD)

Achromatopsia, Cone degeneration 1, Day blindness, Hemeralopia, Rod monochromacy, CD, CD1

Affected Genes: CNGB3

Inheritance: Autosomal Recessive

Genetic testing of the CNGB3 gene will reliably determine whether a dog is a genetic Carrier of cone degeneration. Cone degeneration 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 CNGB3 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. Dogs that are not carriers of the mutation have no increased risk of having affected pups.

• Degenerative Myelopathy (DM)

Other Names: Canine degenerative myelopathy, DM

Affected Genes: SOD1

Inheritance: Autosomal Dominant* With Incomplete Penetrance***

Genetic testing of the SOD1 gene 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. Dogs that are not carriers of the mutation have no increased risk of having affected pups.

• Hereditary Cataracts (HC) (Australian Shepherd Type)
  

Early onset cataracts, Juvenile cataracts, HC, HSF4, JC

Affected Genes: HSF4

Inheritance: Autosomal Dominant* With Incomplete Penetrance***

Genetic testing of the HSF4 gene 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. Dogs that are not carriers of the mutation have no increased risk of having affected pups due to this mutation.

• Hyperuricosuria (HUU)

Other Names: Urolithiasis, HUU

Affected Genes: SLC2A9

Inheritance: Autosomal Recessive*

Genetic testing of the SLC2A9 gene 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. Dogs that are not carriers of the mutation have no increased risk of having affected pups.

• Intestinal Cobalamin Malabsorption (IGS) (Australian Shepherd Type) 

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

  Affected Genes: AMN

  Inheritance: Autosomal Recessive*

  
  

  Genetic testing of the AMN gene will reliably determine whether a dog is a genetic Carrier of intestinal cobalamin malabsorption (Australian shepherd type). Intestinal cobalamin malabsorption (Australian shepherd type) 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 AMN 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. Dogs that are not carriers of the mutation have no increased risk of having affected pups.

  
  
• Multidrug Resistance 1 (MDR1)

Other Names: Names:

Ivermectin sensitivity, MDR1 gene defect, Multidrug sensitivity, MDR1

Affected Genes: ABCB1

Inheritance: Autosomal Incomplete Dominant

Genetic testing of the ABCB1 gene 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. 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. Dogs 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.

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

Other Names: Canine multifocal retinopathy 1, CMR1

Affected Genes: BEST1

Inheritance: Autosomal Recessive*

Genetic testing of the BEST1 gene 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. Dogs that are not carriers of the mutation have no increased risk of having affected pups.

• Neuronal Ceroid Lipofuscinosis 6 (NCL6)

Other Names: Amaurotic idiocy, Batten disease, NCL, NCL6

Affected Genes: CLN6

Inheritance: Autosomal Recessive*

Genetic testing of the CLN6 gene will reliably determine whether a dog is a genetic Carrier of neuronal ceroid lipofuscinosis 6. Neuronal ceroid lipofuscinosis 6 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 CLN6 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. Dogs that are not carriers of this mutation have no increased risk of having affected pups due to this mutation.

• Progressive Retinal Atrophy Progressive Rod-Cone Degeneration (PRA/PRCD)

Other Names: PRA-PRCD, PRCD

Affected Genes: PRCD

Inheritance: Autosomal Recessive

Genetic testing of the PRCD gene 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. Dogs that are not carriers of the mutation have no increased risk of having affected pups. However, because there are multiple types of PRA caused by mutations in other genes, a normal result in PRCD does not exclude PRA in a pedigree.

*Autosomal Recessive

A pattern of inheritance in which an affected dog must have two copies of an abnormal gene in order to present with the disease or trait.

**Variable Expressivity 

Refers to individuals who have the Mutation, but their clinical presentation may vary from mild to severe.

***Incomplete Penetrance

Individual has the Mutation but does not show signs of the disease