OMIA:000975-9615 : Tail, short in Canis lupus familiaris
In other species: domestic cat , cattle , sheep , Asiatic golden cat
Categories: Limbs / digit / tail phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 601397 (gene) , 615709 (trait) , 182940 (trait)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal dominant
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2001
Cross-species summary: Also called brachyury
Species-specific name: bob-tail, bob tail
Species-specific description: Short tails (also known as bob-tails) occur as single-locus traits in a number of dog breeds.
Inheritance: autosomal dominant; early embryonic lethal when homozygous
Mapping: Jones et al. (2008) conducted an across-breed GWAS on 2,801 dogs from 147 breeds, each genotyped for 674 equally spaced SNPs, plus an additional 862 SNPs located in regions of interest. The results highlighted a region on CFA15.
Molecular basis: Noting that null mutations in the T gene (a member of the T-box family of transcription factors) in the mouse result in a phenotype very similar to that of bob-tail in dogs, Haworth et al. (2001) investigated the canine homologue of the mouse T gene as a candidate gene for bob-tails in Pembroke Welsh Corgis. Their hunch was correct: the bob-tail phenotype in this breed is due to a missense mutation (C295G; Ile63Met).
Hytönen et al. (2009) conducted a survey of this mutation (now called C189G) in 360 dogs (including 156 with short tails) from 23 other breeds. They reported that "In the 17 breeds in which the C189G mutation was observed, there was a perfect correlation between this mutation and the short-tail phenotype. However, 6 breeds did not carry the known substitution or any other mutations in the T gene coding regions. . . . Given that the T gene mutation is not present in all breeds of short-tailed dog, there must be yet other genetic factors affecting tail phenotypes to be discovered."
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|T||T brachyury transcription factor||Canis lupus familiaris||1||NC_051805.1 (54369833..54360266)||T||Homologene, Ensembl , NCBI gene|
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
|OMIA Variant ID||Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Source of Genetic Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|79||Pembroke Welsh Corgi||Bob tail||T||missense||Naturally occurring variant||CanFam3.1||1||g.54192143G>C||c.189C>G||p.(I63M)||NM_001003092.1; NP_001003332.1; ENSCAFT00845008388.1; ENSCAFP00845006600.1||rs1152388402||rs1152388402||2001||11252170||Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool|
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
|2023||Majchrakova, Z., Hrckova Turnova, E., Bielikova, M., Turna, J., Dudas, A. :|
|The incidence of genetic disease alleles in Australian Shepherd dog breed in European countries. PLoS One 18:e0281215, 2023. Pubmed reference: 36848350 . DOI: 10.1371/journal.pone.0281215.|
|2019||Dreger, D.L., Hooser, B.N., Hughes, A.M., Ganesan, B., Donner, J., Anderson, H., Holtvoigt, L., Ekenstedt, K.J. :|
|True Colors: Commercially-acquired morphological genotypes reveal hidden allele variation among dog breeds, informing both trait ancestry and breed potential. PLoS One 14:e0223995, 2019. Pubmed reference: 31658272 . DOI: 10.1371/journal.pone.0223995.|
|2009||Hytönen, M.K., Grall, A., Hédan, B., Dréano, S., Seguin, S.J., Delattre, D., Thomas, A., Galibert, F., Paulin, L., Lohi, H., Sainio, K., André, C. :|
|Ancestral T-box mutation is present in many, but not all, short-tailed dog breeds. J Hered 100:236-40, 2009. Pubmed reference: 18854372 . DOI: 10.1093/jhered/esn085.|
|2008||Indrebø, A., Langeland, M., Juul, H.M., Skogmo, H.K., Rengmark, A.H., Lingaas, F. :|
|A study of inherited short tail and taillessness in Pembroke Welsh corgi. J Small Anim Pract 49:220-4, 2008. Pubmed reference: 17850278 . DOI: 10.1111/j.1748-5827.2007.00435.x.|
|Jones, P., Chase, K., Martin, A., Davern, P., Ostrander, EA., Lark, KG. :|
|Single-nucleotide-polymorphism-based association mapping of dog stereotypes. Genetics 179:1033-44, 2008. Pubmed reference: 18505865 . DOI: 10.1534/genetics.108.087866.|
|2001||Haworth, K., Putt, W., Cattanach, B., Breen, M., Binns, M., Lingaas, P., Edwards, Y.H. :|
|Canine homolog of the T-box transcription factor T; failure of the protein to bind to its DNA target leads to a short-tail phenotype Mammalian Genome 12:212-218, 2001. Pubmed reference: 11252170 . DOI: 10.1007/s003350010253.|
|1957||Pullig, T. :|
|Brachyury in Cocker Spaniels Journal of Heredity 48:75-76, 1957.|
|1934||Little, C.C. :|
|Inheritance in Toy Griffons Journal of Heredity 25:198-201, 1934.|
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