OMIA 000975-9615 : Tail, short in Canis lupus familiaris
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."Breed: Corgi. Associated gene:
|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|
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||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.
|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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