OMIA:001951-9913 : Vertebral and spinal dysplasia in Bos taurus |
Categories: Skeleton phene (incl. short stature & teeth)
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 615709 (trait) , 601397 (gene) , 182940 (trait)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal incomplete dominant
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2015
History: This disorder was first reported by Kromik et al. (2015; Vet. J.).
Inheritance: Kromi et al. (2015; Vet. J.) provided evidence of dominant inheritance with incomplete penetrance.
Molecular basis: Kromik et al. (2015; Genetics): c.196A>G; p.66Lys>Glu; NM_001192985.1
Clinical features: As reported by Kromik et al. (2015; Vet. J.), the disorder "is characterised by vertebral (specifically tail) deformities and neurological dysfunctions with gait abnormalities of the hind limbs. The deformities and neurological dysfunctions varied from very mild (only tail deformities) to severe (paraparesis)."
Genetic testing: Kromik et al. (2015; Vet. J.) report that a DNA test, based on the causal mutation (see above), is available.
Breed: Holstein (black and white) (Cattle) (VBO_0000237).
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| T | T brachyury transcription factor | Bos taurus | 9 | NC_037336.1 (101160469..101151142) | T | Homologene, Ensembl , NCBI gene |
Variants
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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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 213 | Holstein (black and white) (Cattle) | Vertebral and spinal dysplasia | T | missense | Naturally occurring variant | ARS-UCD1.2 | 9 | g.101160274T>C | c.196A>G | p.(K66E) | 2015 | 25614605 | 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. (2020). OMIA:001951-9913: 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.
| 2015 | Kromik, A., Ulrich, R., Kusenda, M., Tipold, A., Stein, V.M., Hellige, M., Dziallas, P., Hadlich, F., Widmann, P., Goldammer, T., Baumgärtner, W., Rehage, J., Segelke, D., Weikard, R., Kühn, C. : |
| The mammalian cervical vertebrae blueprint depends on the T (brachyury) gene. Genetics 199:873-83, 2015. Pubmed reference: 25614605 . DOI: 10.1534/genetics.114.169680. | |
| Kromik, A., Kusenda, M., Tipold, A., Stein, V.M., Rehage, J., Weikard, R., Kühn, C. : | |
| Vertebral and spinal dysplasia: A novel dominantly inherited congenital defect in Holstein cattle. Vet J 204:287-92, 2015. Pubmed reference: 25862397 . DOI: 10.1016/j.tvjl.2015.03.013. |
Edit History
- Created by Frank Nicholas on 16 Apr 2015
- Changed by Frank Nicholas on 16 Apr 2015
- Changed by Frank Nicholas on 23 May 2020