Present at birth
For autosomal recessive disorders, dogs with two copies of the variant are at risk of developing the condition. Dogs with one copy of the variant are considered carriers and are usually not at risk of developing the disorder. However, carriers of some complex variants grouped in this category may be associated with a low risk of developing the disorder. Individuals with one or two copies may pass the disorder-associated variant to their puppies if bred.
At risk dogs are highly likely to show signs of this disease in their lifetime.
Partner with your veterinarian to make a plan regarding your dog’s well-being, including any insights provided through genetic testing. If your pet is at risk or is showing signs of this disorder, then the first step is to speak with your veterinarian.
A CP is an abnormal hole in the roof of the mouth (palate) which results in an opening between the nasal passages and the oral cavity through which milk passes when an affected puppy is nursing. The defect, present from birth, allows milk to flow into the nasal passages which will then either spill out of the nostrils while nursing or may cause the puppy to gag out the milk from its lower respiratory tract. These feeding difficulties lead to decreased growth and frequent chronic infections with a greatly increased risk of developing aspiration pneumonia.
Puppies suffering from severe CP are unlikely to survive through puppyhood without proper treatment. A CP can be operated on when a puppy is 3 to 4 months old. Puppies with severe clinical signs may need tube feeding to survive until the operation can be performed.
There are many responsibilities to consider when breeding dogs. Regardless of test results it is important that your dog is in good general health and that you are in a position to care for the puppies if new responsible owners are not found. For first time or novice breeders, advice can be found at most kennel club websites.
This disease is autosomal recessive meaning that two copies of the mutation are needed for disease signs to be shown. A carrier dog with one copy of the CP mutation can be safely bred with a clear dog with no copies of the CP mutation. About half of the puppies will have one copy (carriers) and half will have no copies of the CP mutation. A dog with two copies of the CP mutation can be safely bred with a clear dog. The resulting puppies will all be carriers. Puppies in a litter which is expected to contain carriers should be tested prior to breeding. Carrier to carrier matings are not advised as the resulting litter may contain affected puppies. Please note: It is possible that disease signs similar to the ones caused by the CP mutation could develop due to a different genetic or clinical cause.
| Gene | DLX6 |
|---|---|
| Variant | C>A |
| Chromosome | 14 |
| Coordinate | 22,068,083 |
All coordinates reference CanFam3.1
Wolf, Z. T., Leslie, E. J., Arzi, B., Jayashankar, K., Karmi, N., Jia, Z., … Bannasch, D. L. (2014). A LINE-1 Insertion in DLX6 Is Responsible for Cleft Palate and Mandibular Abnormalities in a Canine Model of Pierre Robin Sequence. PLoS Genetics, 10(4). View the article
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