Cleft Palate (CP1 Dog)
Cleft palate (CP1) is a birth defect in which the palate is not formed properly and does not close. Affected puppies have difficulty drinking and the milk can enter the lungs. Most puppies are therefore euthanised. Some affected puppies also have an unusually small lower jaw.
CP1 is one form of cleft palate in the Nova Scotia Duck Tolling Retriever. The disease is inherited autosomal recessively.
Symptoms
- Difficulty drinking
- Fluid enters the lungs
- Breathing problems
- Pneumonia
General Information
- Cleft palate (CP1) is a birth defect in which the palate is not formed properly and does not close.
- Some affected puppies also have an unusually small lower jaw.
- Because of problems with drinking and eating and the resulting lung problems, most puppies are euthanised.
Breeds affected
Nova Scotia Duck Tolling Retriever
Test Information
This mutation test detects an insertion of 2056 nucleotides in intron 2 of the DXL6 gene.
Genotype and Lab Report
Inheritance: autosomal recessive
→ The disease only occurs if both copies of the gene (cp1/cp1) are affected by the mutation. Dogs that have only one copy of the causative mutation (N/cp1) are clinically healthy carriers.
Genotypes:
N/N = genetically normal
The dog has no predisposition for CP1 and therefore cannot pass it on to its offspring.
N/cp1 = a carrier
The dog is a clinically healthy carrier. The variation is passed on 50% to the offspring, which are also carriers.
cp1/cp1 = affected
The variation would be passed on 100% to the offspring, if the animal is able to reproduce at all.
Recommendations
- Carrier animals can be bred to normal animals (N/cp1 x N/N). Before the offspring are used for breeding, it should be tested whether they are normal or carriers.
- Mating two carrier animals (N/cp1 x N/cp1) should be avoided because there is a 25% chance that the offspring will be affected.
- Affected animals (cp1/cp1) should be excluded from breeding.
Literature
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 Online Mendelian Inheritance in Animals.