OMIA:000874-9940 : Vertebrae, quantitative variation in Ovis aries (sheep)

In other species: pig , domestic yak

Categories: Skeleton phene (incl. short stature & teeth)

Links to MONDO diseases: No links.

Mendelian trait/disorder: unknown

Considered a defect: unknown

Cross-species summary: This phene was originally named 'Rib and vertebral number' in OMIA

Markers: Zhong et al. (2021) analysed “expression levels of synapse differentiation inducing 1-like (SYNDIG1L) and unc-13 homolog C (UNC13C) genes in different tissues, while single-nucleotide polymorphisms … of UNC13C gene g.52919279C > T and SYNDIG1L gene g.82573325C > A in T14 and T13 were genotyped by the Sequenom MassARRAY® SNP assay, and association analysis was performed with the TVN [thoracic vertebral number]. … Association analysis showed that SNPs found in the UNC13C gene had no significant effects on TVN … . The polymorphism of SYNDIG1L g.82573325C > A was significantly correlated with the TVN in both STH [Small-tail Han sheep] ( P<0.05 ) and SNT [Sunite sheep] ( P<0.01 ). Taken together, the SYNDIG1L gene was related to thoracic vertebral development, and this variation may be potentially used as a molecular marker to select the multiple thoracic vertebrae in sheep.”

Li et al. (2021) "performed high-throughput genome resequencing on multi-lumbar vertebrae (n = 18) and normal (n = 11) Duolang sheep ... . We found that the most significantly selective region were located in the 49.68-49.74 MB of chromosome 4 by selective-sweep analysis. We annotated this region and found that it contains SFRP4 which is known to regulate bone development. We further used the PCR-SSCP technology to detect the single nucleotide polymorphism (SNP) of the putative candidate SFRP4 and found that the two SNPs (rs600370085:C > T and rs415133338: A > G) of this gene were significantly associated with the multi-lumbar vertebrae of Duolang sheep."

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing

Breeds: Duolang, China (Sheep) (VBO_0015741), Hu, China (Sheep) (VBO_0015749), Small Tailed Han, China (Sheep) (VBO_0015757), Sunite.
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
SYNDIG1L synapse differentiation inducing 1-like Ovis aries 7 NC_056060.1 (83851150..83794408) SYNDIG1L Homologene, Ensembl , NCBI gene

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2021). OMIA:000874-9940: Online Mendelian Inheritance in Animals (OMIA) [dataset].


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.

2021 Li, C., Liu, K., Dai, J., Li, X., Liu, X., Ni, W., Li, H., Wang, D., Qiao, J., Wang, Y., Cui, Y., Xia, X., Hu, S. :
Whole-genome resequencing to investigate the determinants of the multi-lumbar vertebrae trait in sheep. Gene 809:146020, 2021. Pubmed reference: 34656743. DOI: 10.1016/j.gene.2021.146020.
Zhang, D., Zhang, X., Li, F., Liu, T., Hu, Z., Gao, N., Yuan, L., Li, X., Zhao, Y., Zhao, L., Zhang, Y., Xu, D., Song, Q., Cheng, J., Wang, W. :
Whole-genome resequencing identified candidate genes associated with the number of ribs in Hu sheep. Genomics 113:2077-2084, 2021. Pubmed reference: 33965549. DOI: 10.1016/j.ygeno.2021.05.004.
Zhong, Y.J., Yang, Y., Wang, X.Y., Di, R., Chu, M.X., Liu, Q.Y. :
Expression analysis and single-nucleotide polymorphisms of SYNDIG1L and UNC13C genes associated with thoracic vertebral numbers in sheep (Ovis aries). Archives Animal Breeding 64:131-138, 2021. Pubmed reference: 34084911. DOI: doi: 10.5194/aab-64-131-2021.
2020 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.
2013 Donaldson, C.L., Lambe, N.R., Maltin, C.A., Knott, S., Bunger, L. :
Between- and within-breed variations of spine characteristics in sheep. J Anim Sci 91:995-1004, 2013. Pubmed reference: 23243168. DOI: 10.2527/jas.2012-5456.

Edit History

  • Created by Imke Tammen2 on 17 Jun 2021
  • Changed by Imke Tammen2 on 17 Jun 2021
  • Changed by Imke Tammen2 on 03 Nov 2021