OMIA:000975-9940 : Tail, short in Ovis aries (sheep) |
In other species: dog , domestic cat , taurine cattle , Asiatic golden cat
Categories: Limbs / fins / 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
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2018
Cross-species summary: Also called brachyury
Species-specific description: There is hope that this trait may provide a form of natural resistance to the sheep blowfly.
Molecular basis: Zhi et al. (2018) reported that "a nonsynonymous mutation at c.G334T [in the TBXT gene, previously known as the T gene] resulted in p.G112W substitution." These authors "inferred that the c.G334T mutation in T leads to functional changes in Brachyury—encoded by this gene—resulting in the short-tail phenotype" in the Hulunbuir short‐tailed breed. Han et al. (2019) reported that "one missense mutation, c.334G>T (GGG>TGG) [which appears to be the same variant reported by Zhi et al. (2018)] with a completely linked [adjacent] synonymous variant c.333G>C (CCG>CCC) [both in the TBXT gene, previously known as the T gene] was found to be associated with the ‘tailless’ characteristic in typical fat‐rumped sheep breeds". In neither paper do the authors appear to be concluding that the named variants should be listed as likely causal variants. Li et al. (2022) "revealed a strong selective signature at the mutation (c.334C > A, p.G112W) [the variant previously reported by Zhi et al. 2018] in TBXT and confirmed its association with tail length among sheep populations of wide geographic and genetic origins. .... [The authors] verified its function using CRISPR-Cas9 genome editing." (This study involves genetically modified organisms (GMO). Zhou et al. (2023) also "successfully generated sheep with ... the tail length-related TBXT p.G112W" using prime editing. (This study involves genetically modified organisms (GMO).
Genetic engineering:
Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| TBXT | T-box transcription factor T | Ovis aries | 8 | NC_056061.1 (88883283..88872951) | 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 | Inferred EVA rsID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1578 | Tail, short | TBXT | missense | Naturally occurring variant | c.334C>A | p.G112W | The gene is also called TBXT | 2022 | 35948368 29208649 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:000975-9940: 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 | Hümmelchen, H., Wenisch, S., Brügemann, K., König, S., Wagner, H. : |
| [Phenotyping the sheep tail - Presentation of characterization methods in the context of breeding for short-tailedness]. Tierarztl Prax Ausg G Grosstiere Nutztiere 51:6-14, 2023. Pubmed reference: 36913936. DOI: 10.1055/a-2007-1483. | |
| Johnson, P.L., Scobie, D.R., Dodds, K.G., Powdrell, S.H., Rowe, S.J., McRae, K.M. : | |
| Genetic parameter analysis of bareness and tail traits in New Zealand sheep. J Anim Sci 101, 2023. Pubmed reference: 37225139. DOI: 10.1093/jas/skad161. | |
| Korzh, V. : | |
| Never-ending story of Brachyury: From short-tailed mice to tailless primates. Cells Dev :S2667-2901(23)00072-4:203896, 2023. Pubmed reference: 38072067. DOI: 10.1016/j.cdev.2023.203896. | |
| Zhou, S., Lenk, L.J., Gao, Y., Wang, Y., Zhao, X., Pan, M., Huang, S., Sun, K., Kalds, P., Luo, Q., Lillico, S., Sonstegard, T., Scholl, U.I., Ma, B., Petersen, B., Chen, Y., Wang, X. : | |
| Generation of sheep with defined FecB^B and TBXT mutations and porcine blastocysts with KCNJ5 G151R/+ mutation using prime editing. BMC Genomics 24:313, 2023. Pubmed reference: 37308830. DOI: 10.1186/s12864-023-09409-y. | |
| 2022 | Li, X., He, S.G., Li, W.R., Luo, L.Y., Yan, Z., Mo, D.X., Wan, X., Lv, F.H., Yang, J., Xu, Y.X., Deng, J., Zhu, Q.H., Xie, X.L., Xu, S.S., Liu, C.X., Peng, X.R., Han, B., Li, Z.H., Chen, L., Han, J.L., Ding, X.Z., Dingkao, R., Chu, Y.F., Wu, J.Y., Wang, L.M., Zhou, P., Liu, M.J., Li, M.H. : |
| Genomic analyses of wild argali, domestic sheep, and their hybrids provide insights into chromosome evolution, phenotypic variation, and germplasm innovation. Genome Res 32:1669-84, 2022. Pubmed reference: 35948368. DOI: 10.1101/gr.276769.122. | |
| 2021 | Kalds, P., Luo, Q., Sun, K., Zhou, S., Chen, Y., Wang, X. : |
| Trends towards revealing the genetic architecture of sheep tail patterning: Promising genes and investigatory pathways. Anim Genet 52:799-812, 2021. Pubmed reference: 34472112. DOI: 10.1111/age.13133. | |
| 2020 | Amane, A., Belay, G., Nasser, Y., Kyalo, M., Dessie, T., Kebede, A., Getachew, T., Entfellner, J.D., Edea, Z., Hanotte, O., Tarekegn, G.M. : |
| Genome-wide insights of Ethiopian indigenous sheep populations reveal the population structure related to tail morphology and phylogeography. Genes Genomics 42:1169-1178, 2020. Pubmed reference: 32803704. DOI: 10.1007/s13258-020-00984-y. | |
| Zhao, F., Deng, T., Shi, L., Wang, W., Zhang, Q., Du, L., Wang, L. : | |
| Genomic scan for selection signature reveals fat deposition in Chinese indigenous sheep with extreme tail types. Animals (Basel) 10:773, 2020. Pubmed reference: 32365604. DOI: 10.3390/ani10050773. | |
| 2019 | Han, J., Yang, M., Guo, T., Niu, C., Liu, J., Yue, Y., Yuan, C., Yang, B., Han, J., Yang, M., Guo, T., Niu, C., Liu, J., Yue, Y., Yuan, C., Yang, B. : |
| Two linked TBXT (brachyury) gene polymorphisms are associated with the tailless phenotype in fat-rumped sheep. Anim Genet 50:772-777, 2019. Pubmed reference: 31475743. DOI: 10.1111/age.12852. | |
| 2018 | Ahbara, A., Bahbahani, H., Almathen, F., Al Abri, M., Agoub, M.O., Abeba, A., Kebede, A., Musa, H.H., Mastrangelo, S., Pilla, F., Ciani, E., Hanotte, O., Mwacharo, J.M. : |
| Genome-wide variation, candidate regions and genes associated with fat deposition and tail morphology in Ethiopian indigenous sheep. Front Genet 9:699, 2018. Pubmed reference: 30687385. DOI: 10.3389/fgene.2018.00699. | |
| Zhi, D., Da, L., Liu, M., Cheng, C., Zhang, Y., Wang, X., Li, X., Tian, Z., Yang, Y., He, T., Long, X., Wei, W., Cao, G. : | |
| Whole genome sequencing of Hulunbuir short-tailed sheep for identifying candidate genes related to the short-tail phenotype. G3 (Bethesda) 8:377-383, 2018. Pubmed reference: 29208649. DOI: 10.1534/g3.117.300307. | |
| 1991 | James, P.J., Gare, D.R., Singh, A.W., Clark, J.P., Ponzoni, R.W., Ancell, P.M. : |
| Studies of the Potential for Breeding Short Tail Merinos Wool Technology and Sheep Breeding 38:106-111, 1991. | |
| James, P.J., Ponzoni, R.W., Gare, D.R., Cockrum, K.S. : | |
| Inheritance of short tailedness in South Australian Merinos Proceedings of the Australian Association of Animal Breeding and Genetics 9:404-407, 1991. |
Edit History
- Created by Frank Nicholas on 06 Sep 2005
- Changed by Frank Nicholas on 10 Sep 2019
- Changed by Imke Tammen2 on 15 Jun 2023