OMIA:000975-9615 : Tail, short in Canis lupus familiaris (dog)

In other species: domestic cat , taurine cattle , sheep , Asiatic golden cat

Categories: Limbs / fins / digit / tail phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 601397 (gene) , 615709 (trait) , 182940 (trait)

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 (also called TBXT) 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."

Breeds: Doberman Pinscher (Dog) (VBO_0200442), obsolete Corgi (Dog) (VBO_0200386).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
TBXT T-box transcription factor T Canis lupus familiaris 1 NC_051805.1 (54369833..54360266) TBXT Homologene, Ensembl , NCBI gene

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

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 Year Published PubMed ID(s) Acknowledgements
79 Pembroke Welsh Corgi (Dog) Bob tail TBXT 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 2001 11252170 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:000975-9615: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

References

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.
Meadows, J.R.S., Kidd, J.M., Wang, G.D., Parker, H.G., Schall, P.Z., Bianchi, M., Christmas, M.J., Bougiouri, K., Buckley, R.M., Hitte, C., Nguyen, A.K., Wang, C., Jagannathan, V., Niskanen, J.E., Frantz, L.A.F., Arumilli, M., Hundi, S., Lindblad-Toh, K., Ginja, C., Agustina, K.K., André, C., Boyko, A.R., Davis, B.W., Drögemüller, M., Feng, X.Y., Gkagkavouzis, K., Iliopoulos, G., Harris, A.C., Hytönen, M.K., Kalthoff, D.C., Liu, Y.H., Lymberakis, P., Poulakakis, N., Pires, A.E., Racimo, F., Ramos-Almodovar, F., Savolainen, P., Venetsani, S., Tammen, I., Triantafyllidis, A., vonHoldt, B., Wayne, R.K., Larson, G., Nicholas, F.W., Lohi, H., Leeb, T., Zhang, Y.P., Ostrander, E.A. :
Genome sequencing of 2000 canids by the Dog10K consortium advances the understanding of demography, genome function and architecture. Genome Biol 24:187, 2023. Pubmed reference: 37582787. DOI: 10.1186/s13059-023-03023-7.
Wade, C.M., Nuttall, R., Liu, S. :
Comprehensive analysis of geographic and breed-purpose influences on genetic diversity and inherited disease risk in the Doberman dog breed. Canine Med Genet 10:7, 2023. Pubmed reference: 37277858. DOI: 10.1186/s40575-023-00130-3.
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.

Edit History


  • Created by Frank Nicholas on 12 Sep 2005
  • Changed by Frank Nicholas on 12 Dec 2011
  • Changed by Frank Nicholas on 22 May 2013
  • Changed by Frank Nicholas on 17 Jun 2013
  • Changed by Frank Nicholas on 16 Apr 2020
  • Changed by Imke Tammen2 on 28 Aug 2021
  • Changed by Imke Tammen2 on 07 Jun 2023
  • Changed by Imke Tammen2 on 14 Nov 2023