OMIA 001951-9913 : Vertebral and spinal dysplasia in Bos taurus |
Possibly relevant human trait(s) and/or gene(s) (MIM number):
615709
Mendelian trait/disorder:
yes
Mode of inheritance:
Autosomal Incompletely 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.
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
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 required column headers
| Breed(s) | Variant Phenotype | Gene | Allele | Type of Variant | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Holstein | Vertebral and spinal dysplasia | T | missense | UMD3.1 | 9 | g.102675827A>G | c.196A>G | p.K66E | 2015 | 25614605 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool |
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., 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. | ||
| 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. |
Edit History
- Created by Frank Nicholas on 16 Apr 2015
- Changed by Frank Nicholas on 16 Apr 2015