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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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Spesifikasjoner
| Breeds | Australian cattledog stumphalet, Braque du Bourbonnais, Brasiliansk terrier, Brittany, Kroatisk gjeterhund, Miniatyr amerikansk gjeter, Mudi, Polsk owczarek nizinny, Pyreneisk gjeterhund, Spansk vannhund, Västgøtaspets, Australian Shepherd, Dansk-Svensk Gårdshund, Jack Russell Terrier, Schipperke, Welsh Corgi Pembroke |
|---|---|
| Gene | |
| Chromosome | 1 |
| Mutation | c.189C>G |
| Mode of Inheritance | Autosomal dominerende |
| Organ | |
| Specimen | Svaber, EDTA blod, heparinblod, sæd, vev |
| Also known as | Brachyury; Bobtail |
Generell informasjon
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.
Kliniske egenskaper
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.
Tilleggsinformasjon
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.
Referanser
Pubmed ID: 11252170
Year published: 2001
Omia ID: 975
Omia variant ID: 79