Cleft Palate (CP1) in Nova Scotia Duck Tolling Retrievers

Quick Summary

There are multiple genetic causes of cleft palate within the Nova Scotia Duck Tolling Retriever breed. The most common form has been identified as CP1.

Phenotype: A cleft palate is a birth defect whereby a hole (cleft) in the roof of the mouth (palate) develops in a puppy during gestation. Puppies born with cleft palate can experience difficulty nursing, which will greatly increase their risk of developing aspiration pneumonia, a serious life-threatening condition.

Mode of Inheritance: Autosomal recessive

Alleles: N = Normal, A = Cleft palate (CP1 variant)

Breeds appropriate for testing: Nova Scotia Duck Tolling Retriever

Explanation of Results:

  • Dogs with N/N genotype will not have this form of cleft palate and cannot transmit this CP1 cleft palate variant to their offspring.
  • Dogs with N/A genotype will not be affected by this form of cleft palate, but are carriers. They will transmit this CP1 cleft palate variant to 50% of their offspring. Matings between two carriers are predicted to produce 25% CP1 cleft palate-affected puppies.
  • Dogs with A/A genotype will have this form of cleft palate and will transmit this CP1 cleft palate variant to all of their offspring.

Results of this test can be submitted to the OFA (Orthopedic Foundation for Animals)

Price

$50 one test per animal
$30 as additional test (same animal)

Panels Available
Additional Details

A cleft palate is a birth defect whereby a hole (cleft) in the roof of the mouth (palate) develops in a puppy during gestation. Puppies born with cleft palate can experience difficulty nursing which will greatly increase their risk of developing aspiration pneumonia, a serious life-threatening condition. There are multiple genetic causes of cleft palate within the Nova Scotia Duck Tolling Retriever breed; however, the most common form has been identified as CP1.

Researchers from the Bannasch Laboratory at the University of California, Davis discovered the genetic cause of CP1 cleft palate in the Nova Scotia Duck Tolling Retriever. Dogs with this form of cleft palate have a large insertion into a gene known to affect the proper development of the palate. This mutation is not present in any other breed based on testing conducted on over 300 individual animals of over 80 different dog breeds.

Cleft palate caused by CP1 is inherited as an autosomal recessive disease. Affected puppies inherit two mutant copies of this defective gene, one from each of their parents. Dogs that have 1 copy of the CP1 mutation (carriers) are completely normal and can be safely bred to N/N dogs in order to maintain diversity within the breed and select for other positive attributes in carrier dogs.

Breeders can use results from the test as a tool to select mating pairs to avoid producing affected dogs. At the time that this test was released, approximately 15% of Tollers were carriers of CP1 (N/A), and this mutation accounted for 62% of cleft puppies from North America.

 

Note: This test does not apply to any breed other than the Nova Scotia Duck Tolling Retriever.
Turnaround Time
5-10 business days

Species

Dog

Type of Test

Results Reported As
Test Result Cleft Palate (CP1)

N/N

Normal. No copies of the CP1 mutation are present.

N/A

Carrier. 1 copy of the CP1 mutation is present. If carriers are bred together, 25% of offspring are expected to be affected.

A/A

Affected. 2 copies of the CP1 mutation.

References

Wolf, Z.T., Brand, H.A., Shaffer, J.R., Leslie, E.J., Arzi, B., Willet, C.E., Cox, T.C., McHenry, T., Narayan, N., Feingold, E., Wang, X., Sliskovic, S., Karmi, N., Safra, N., Sanchez, C., Deleyiannis, F.W., Murray, J.C., Wade, C.M., Marazita, M.L., & Bannasch, D.L. (2015). Genome-wide association studies in dogs and humans identify ADAMTS20 as a risk variant for cleft lip and palate. PLoS Genetics, 11(3):e1005059. doi: 10.1371/journal.pgen.1005059