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The bobtail or brachyury trait is caused by an autosomal dominant mutation in the T-box transcription factor T (TBXT) gene.
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Specifications
| Breeds | Braque du Bourbonnais, Brittany, Croatian Sheepdog, Danish-Swedish Farmdog, Mudi, Polish Lowland Sheepdog, Pyrenean Shepherd, Swedish Vallhund, Australian Shepherd, Australian stumpy tail cattle dog, Brazilian Terrier, Jack Russell Terrier, Miniature American Shepherd, Pembroke Welsh Corgi, Schipperke, Spanish Water Dog |
|---|---|
| Gene | |
| Organ | |
| specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Also known as | |
| Year Published |
General information
The bobtail or brachyury trait is caused by an autosomal dominant mutation in the T-box transcription factor T (TBXT) gene. The TBXT or T-gene encodes transcription factors that play critical roles in embryonic development, especially the tail and spine. A single copy of the mutation (heterozygous) causes the bobtail look, but two copies (homozygous mutant) disrupt development so severely that the embryo cannot survive. This makes the mutation homozygous lethal.
The tested mutation was originally discovered in the Pembroke Welsh Corgi, but also causes distinctive short tails in multiple other breeds, mainly sheepdogs and hunting breeds.
Clinical features
Dogs with one copy of the mutation have a naturally short or missing tail. If a puppy inherits two copies (homozygous mutant), it usually dies before birth due to the complete turn-off of the gene.
Additional information
The T gene mutation is not present in all breeds of short-tailed dogs, and therefore another genetic factor is possible affecting the tail phenotype in for example Spaniels, Schnauzers and Rottweilers.
References
Pubmed ID: 11252170
Omia ID: 975