Cleft Palate in the Nova Scotia Duck Tolling Retriever

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 (NSDTR) breed; however, the most common form has been identified as CP1.

Discovery

Scientists from the Bannasch Laboratory at the University of California, Davis, through a grant funded by CHF, 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.

Test

· Clear: CP1 N/N This dog has two normal copies of CP1

· Carrier: CP1 N/A This dog has one mutant (abnormal) copy of CP1

· Affected: CP1 A/A This dog has two mutant (abnormal) copies of CP1

Tests are ordered online through the Orthopedic Foundation for Animals (OFA) website. The OFA administers all order handling. Upon receipt of an order, the OFA will send out the test kit which will include an FTA card for DNA sample collection, along with sample collection instructions. Using the FTA card technology, owners can safely collect DNA samples at home. The collection process is non-invasive, and no veterinary appointment is necessary. Samples are then sent to the lab for processing. Results will be forwarded to the OFA, and the OFA will issue the resulting report to the owner. The fee for each test is $80 and includes the test kit, laboratory processing, and subsequent registration in the OFA databases. More information about ordering the test kit is available on the OFA website:  http://www.offa.org/dnatesting/cp1.html

The mutation test developed identifies carriers of CP1 within the NSDTR breed. At this time it does not apply to any breed other than the NSDTR. If you have a puppy of a different breed with cleft palate and 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).

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 the Bannasch Laboratory has 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).