Breeds Affected: Nova Scotia Duck Tolling Retriever
Samples Accepted: Blood, Buccal Swabs
Disease Information: Cleft palate is a birth defect where palate (the top of the mouth) is not formed properly. Affected pups have difficulty nursing and milk may enter the lungs; many are humanely euthanized upon diagnosis. Some affected pups also have an abnormally small lower jaw. CP1 is just one of multiple forms of cleft palate in the NSDT.
Inheritance Information: Cleft Palate 1 (CP1) is autosomal recessive, meaning that animals with two copies of this allele will be affected. Animals with one copy of the gene will be clinically-normal carriers. Because more than one genetic form of Cleft Palate exists in the NSDT, it is possible that normal dogs may still carry another gene for Cleft Palate for which no gene test has yet been found.
The possible genotypes are:
N/N The dog is normal, and cannot produce CP1 affected offspring.
N/cp1 The dog is a carrier, and can pass the CP1 allele on to approximately 50% of any offspring. If bred to another N/cp1 carrier, approximately 25% of the offspring will be normal, 50% will be CP1 carriers, and 25% will be affected with CP1.
cp1/cp1 The dog is affected with CP1. If bred to a normal animal, 100% of the offspring will be CP1 carriers. If bred to an N/cp1 carrier, 50% of the offspring will be CP1 carriers and 50% will be affected with CP1.
– Carriers may be bred to normal animals (N/cp1 x N/N) without any risk of producing affected offspring. The offspring should be tested before breeding to determine if they are carriers or normal.
– Breeding two carriers (N/cp1 x N/cp1) is not recommended due to the possibility of 25% of the offspring being CP1 affected.
– Affected animals (cp1/cp1) should not be used for breeding.
Test Information: This test identifies a 2056 nucleotide insertion in intron 2 of the DXL6 gene.
Wolf, Z.T., Leslie, E.J., Arzi, B., Jayashankar, K., Karmi, N., Jia, Z., Rowland, D.J., Young, A., Safra, N., Sliskovic, S., Murray, J.C., Wade, C.M., Bannasch, D.L.: A LINE-1 Insertion in DLX6 Is Responsible for Cleft Palate and Mandibular Abnormalities in a Canine Model of Pierre Robin Sequence. PLoS Genet 10:e1004257, 2014. Pubmed reference: 24699068. DOI: 10.1371/journal.pgen.1004257.
Further information is available at the Online Mendelian Inheritance in Animals website.