Canine Polydactyly (PPD; DC-2)

Acronym: PPD
Gene: SHH
Mutation: g.19380592C>T
Inheritance: Autosomal Dominant
Sample type: CHS (Cheek Swab), WBE (Whole Blood EDTA)


Genetics and characteristics

Canine Polydactyly is a genetic developmental trait found in dogs and cats when they develop additional digits (one or two) in the forelimb or hind limb. Dogs have five digits on their front paws and four digits on their hind paws. It is believed the first digit of the hindlimb known as the hind dewclaw was lost due to evolutionary adaptation. Congenital malformations of the vertebrate limb are often caused by alterations in the anteroposterior patterning of limb development. Polydactyly has been detected in many breeds such as the Beagle, Belgian Malinois, Cocker Spaniel, Rottweiler, Shetland Sheepdog, Standard Poodle, etc. and it is associated with a mutation in the conserved intronic region of the LMBR1 gene. The LMBR1 gene encodes a putative transmembrane protein that is involved in regulating the expression of other genes responsible for limb development.

This type of dominant genetic alteration commonly called „dewclaw“ found in various types of dog breeds is inherited as an autosomal dominant trait meaning even dogs with only one mutated LMBR1 gene will develop extra digits, not only dogs that carry two mutated genes. Early genetic testing can help identify dogs that carry the gene with the specific mutation and help breeders in further breeding by proper selection of mating pairs.

 


Results Reported As

 
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References:

Park, K., Kang, J., Subedi, K. P., Ha, J. H., Park, C. (2008). Canine polydactyl mutations with heterogeneous origin in the conserved intronic sequence of LMBR1. Genetics, 179(4), 2163–2172. https://doi.org/10.1534/genetics.108.087114

Kropatsch, R., Melis, C., Stronen, A. V., Jensen, H., Epplen, J. T. (2015). Molecular Genetics of Sex Identification, Breed Ancestry and Polydactyly in the Norwegian Lundehund Breed. The Journal of heredity, 106(4), 403–406. https://doi.org/10.1093/jhered/esv031

 


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Suitable for breeds

AMERICAN COCKER SPANIEL BEAGLE BELGIAN SHEPHERD - MALINOIS ENGLISH COCKER SPANIEL GIANT SCHNAUZER MINIATURE POODLE MINIATURE SCHNAUZER NORWEGIAN LUNDEHUND POODLE ROTTWEILER SCHNAUZER SHETLAND SHEEPDOG SHIH TZU TOY POODLE YORKSHIRE TERRIER