OMIA 000689-9913 : Myoclonus in Bos taurus

In other species: horse

Possibly relevant human trait(s) and/or gene(s) (MIM number): 149400

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2001

History: This disorder was previously called 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".

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

By default, variants are sorted chronologically by year of publication, to provide a historical perspective.

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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
Polled Hereford Myoclonus GLRA1 nonsense (stop-gain) UMD 3.1 7 g.65080197C>A c.156C>A p.Y52* 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)

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.
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 Journal 4:2761-2766, 1990. Pubmed reference: 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 Journal of Neurochemistry 55:421-426, 1990. Pubmed reference: 2164565.
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.
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
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  • Changed by Frank Nicholas on 16 Aug 2016