OMIA:000689-9913 : Hyperekplexia, GLRA1-related in Bos taurus (taurine cattle) |
Categories: Nervous system phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 149400 (trait) , 138491 (gene)
Links to relevant human diseases in MONDO:
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2001
Cross-species summary:
Renamed from 'myoclonus' to 'hyperekplexia, GLRA1-related' [27/5/2023]
See also entries for 'OMIA:001594 : Hyperekplexia (Startle disease), SLC6A5-related'
Species-specific name: inherited myoclonus; congenital myoclonus; neuraxial (o)edema
Molecular basis: By cloning and sequencing a very likely comparative candidate gene (based on the homologous disorder in humans and mice), Pierce et al. (2001) identified a causal mutation as a "a cytidine to adenine transversion at position 156 of the Glra1 gene (156C>A). The 156A allele is predicted to substitute a termination codon for a tyrosine codon (Y24*) in exon 2 . . . This substitution is predicted to result in a prematurely truncated protein that lacks ligand-binding and membrane-spanning domains".
Breed:
Polled Hereford (Cattle) (VBO_0000341).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| GLRA1 | glycine receptor alpha 1 | Bos taurus | 7 | NC_037334.1 (63108191..63021619) | GLRA1 | 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 | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 302 | Polled Hereford (Cattle) | Myoclonus | GLRA1 | nonsense (stop-gain) | Naturally occurring variant | ARS-UCD1.3 | 7 | NC_037334.1:g.63070074G>T | NM_174321.2:c.156C>A | NP_776746.1:p.(Y52*) | rs5334475027 | 2001 | 11178872 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool; Breed information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170) |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:000689-9913: 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.
| 2021 | Konovalova, E., Romanenkova, O., Kostyunina, O., Gladyr, E. : |
| The molecular bases study of the inherited diseases for the health maintenance of the beef cattle. Genes (Basel) 12:678, 2021. Pubmed reference: 33946496. DOI: 10.3390/genes12050678. | |
| 2011 | Windsor, P., Kessell, A., Finnie, J. : |
| Neurological diseases of ruminant livestock in Australia. V: congenital neurogenetic disorders of cattle. Aust Vet J 89:394-401, 2011. Pubmed reference: 21933167. DOI: 10.1111/j.1751-0813.2011.00826.x. | |
| 2006 | Schulze, U., Wohlke, A., Drogemoller, C., Marxfeld, H., De Vries, F., Baumgartner, W., Distl, O. : |
| [Case report: congenital myoclonus in a German Holstein calf]. Dtsch Tierarztl Wochenschr 113:203-6, 2006. Pubmed reference: 16821565. | |
| 2002 | Healy, P.J., Dennis, J.A., Windsor, P.A., Pierce, K.D., Schofield, P.R. : |
| Genotyping cattle for inherited congenital myoclonus and maple syrup urine disease Australian Veterinary Journal 80:695-697, 2002. Pubmed reference: 12465829. | |
| 2001 | Pierce, K.D., Handford, C.A., Morris, R., Vafa, B., Dennis, J.A., Healy, P.J., Schofield, P.R. : |
| A nonsense mutation in the alpha1 subunit of the inhibitory glycine receptor associated with bovine myoclonus. Mol Cell Neurosci 17:354-63, 2001. Pubmed reference: 11178872. DOI: 10.1006/mcne.2000.0934. | |
| 2000 | Nguyen, BQ., Kanthasamy, AG., Truong, DD. : |
| Animal models of myoclonus: an overview. Mov Disord 15 Suppl 1:22-5, 2000. Pubmed reference: 10755268. | |
| 1990 | Gundlach, A.L. : |
| Disorder of the inhibitory glycine receptor - inherited myoclonus in Poll Hereford calves. FASEB J 4:2761-6, 1990. Pubmed reference: 2165010. DOI: 10.1096/fasebj.4.10.2165010. | |
| Lummis, S.C.R., Gundlach, A.L., Johnston, G.A.R., Harper, P.A.W., Dodd, P.R. : | |
| Increased gamma-aminobutyric acid receptor function in the cerebral cortex of myoclonic calves with an hereditary deficit in glycine strychnine receptors. J Neurochem 55:421-6, 1990. Pubmed reference: 2164565. DOI: 10.1111/j.1471-4159.1990.tb04153.x. | |
| 1989 | Luscombe, G.P. : |
| Animal models of myoclonus. Disorders of movement : clinical, pharmacological and physiological aspects (eds N.P. Quinn and P.G. Jenner), Academic Press, London :445-454, 1989. | |
| Tadich, N., Cubillos, V., Wittwer, F. : | |
| Neuraxial oedema of a Hereford calf without hypomyelinogenesis. Archivos de Medicina Veterinaria 21:167-172, 1989. | |
| 1988 | Gundlach, A.L., Dodd, P.R., Grabara, C.S.G., Watson, W.E.J., Johnston, G.A.R., Harper, P.A.W., Dennis, J.A., Healy, P.J. : |
| Deficit of spinal cord glycine/strychnine receptor in inherited myoclonus of Polled Hereford calves Science 241:1807-1810, 1988. Pubmed reference: 2845573. | |
| 1987 | Healy, P.J., Dennis, A.J., Harper, P.A.W., Heath, T.D. : |
| Determination of the congenital myoclonus genotype of bulls by multiple ovulation-embryo transfer Australian Veterinary Journal 64:224-225, 1987. Pubmed reference: 3675417. | |
| 1986 | Harper, PA., Healy, PJ., Dennis, JA. : |
| Inherited congenital myoclonus of polled Hereford calves (so-called neuraxial oedema): a clinical, pathological and biochemical study. Vet Rec 119:59-62, 1986. Pubmed reference: 3750776. | |
| 1984 | Morrow, C.J. : |
| Hereditary neuraxial oedema of Hereford cattle. Aust Vet J 61:414, 1984. Pubmed reference: 6534366. DOI: 10.1111/j.1751-0813.1984.tb07183.x. | |
| 1980 | Chick, B.F., Clarke, F.L., Chambers, S. : |
| Neuraxial oedema of polled Hereford calves New South Wales Veterinary Proceedings 16:62-65, 1980. | |
| 1978 | Cho, D.Y., Leipold, H.W. : |
| Hereditary neuraxial edema in polled Hereford calves Pathology Research and Practice 163:158-162, 1978. | |
| 1974 | Weaver, A.D. : |
| Hereditary neuraxial oedema in polled Hereford calves Deutsche Tierarztliche Wochenschrift 81:572-573, 1974. Pubmed reference: 4611727. |
Edit History
- Created by Frank Nicholas on 15 Nov 2005
- Changed by Frank Nicholas on 09 Dec 2011
- Changed by Frank Nicholas on 18 Sep 2012
- Changed by Frank Nicholas on 29 Sep 2013
- Changed by Frank Nicholas on 16 Aug 2016
- Changed by Imke Tammen2 on 14 Jul 2021
- Changed by Imke Tammen2 on 27 May 2023