Cleft Palate (CP1) in the Nova Scotia Duck Tolling Retriever (NSDTR)
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 NSDTR breed; however, the most common form has been identified as CP1.
The mutation test we have developed identifies carriers of CP1 within the NSDTR breed. It does not apply to any breed other than the NSDTR. If you have a puppy of a different breed with cleft palate and you wish to participate in the identification of the gene(s) responsible please contact the Bannasch Laboratory at the University of California at Davis (ztwolf@ucdavis.edu).
Discovery:
Scientists from the Bannasch Laboratory at the University of California, Davis have discovered the genetic cause of ONE FORM of 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.
The mode of inheritance:
Cleft palate caused by CP1 is a simple autosomal recessive disease meaning that an affected puppy has inherited one mutant copy of the gene from each parent.
The test:
- CP1 N/N This dog has two normal copies of CP1
- CP1 N/A This dog has one mutant (abnormal) copy of CP1
- CP1 A/A This dog has two mutant (abnormal) copies of CP1
In order to keep the cost of this test low the test will be run in batches of 48 which could affect the turnaround time for results.
Counseling:
CP1 is an inherited autosomal recessive disease. Animals that have only one mutant copy of CP1 (N/A) are normal but they are carriers of the disease. When two carriers are bred to each other the resulting puppies can be affected. At the time that this test was released, approximately 15% of Tollers were carriers of CP1 (N/A); however, the number of carriers can change with each generation.
To date we have received 29 samples from North American NSDTR puppies with cleft palate, 18 of which had two mutant (CP1 A/A) copies of CP1. Dogs that are carriers of CP1 (N/A) are completely normal and they can be safely bred to dogs that are non carriers of CP1 (N/N) in order to maintain diversity within the breed and to select for other positive attributes in carrier dogs. Puppies affected with cleft palate will be tested at no charge. Please contact Zena Wolf for more details (ztwolf@ucdavis.edu).
