OMIA:001450-9913 : Congenital muscular dystonia 1 in Bos taurus (taurine cattle)

Categories: Muscle phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 601003 (trait) , 108730 (gene)

Links to relevant human diseases in MONDO:

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2008

Species-specific symbol: CMD1

Species-specific description: In the words of Charlier et al. (2008), "All calves with CMD have episodes of generalized muscle contractures, but careful clinical examination suggested two distinct phenotypes (CMD1 and CMD2)." 

Mapping: In a pioneering use of tens of thousands of SNP markers ("using either the 25K Affymetrix SNP panel or a custom-made 60K Illumina panel"), Charlier et al. (2008) identified a single 2.12 Mb region on BTA25 in which 12 affected calves were significantly more homozygous for the same allele at each of many SNPs, when compared with 14 normal controls. An investigation of comparative candidate genes in this region identified six possible candidate genes. Sequencing revealed the causative molecular lesion in the ATPA2A1 gene, whose peptide is involved in calcium flow into the sarcoplasmic reticulum.
Grünberg et al. (2010) reported a Dutch Improved Red and White cross-bred calf with clinical signs of congenital pseudomyotonia (OMIA:001464-9913) yet with the same mutation (OMIAvariantID:188; p.(R559C)) as seen in the Belgian Blue with congenital muscular dystonia 1.

Molecular basis: "A missense mutation (C1676T) leading to a R559C substitution in exon 14 of ATP2A1" (Charlier et al., 2008)

Clinical features: "Calves affected by CMD1 show impaired swallowing, fatigue upon stimulation or exercise, and muscle myotonia resulting in an inability to flex limbs and injurious falling. CMD1 calves usually die within a few weeks as a result of respiratory complications." (Charlier et al. (2008)

Breed: Belgian Blue (Cattle) (VBO_0000139).
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
ATP2A1 ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 Bos taurus 25 NC_037352.1 (25946606..25929252) ATP2A1 Homologene, Ensembl , NCBI gene


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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
188 Belgian Blue (Cattle) Maas-Rijn-Ijssel (Cattle) Congenital muscular dystonia 1 ATP2A1 missense Naturally occurring variant ARS-UCD1.2 25 g.25933247G>A c.1675C>T p.(R559C) Variant is reported to cause congenital muscular dystonia 1 in Belgian Blue cattle (OMIA 001450-9913) and congenital pseudomyotonia in a Dutch improved red and white cross-bred calf (OMIA:001464_9913). 2008 18344998 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)" ( 

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:001450-9913: 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 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.
2019 Zepeda-Batista, J.L., Parra-Bracamonte, G.M., Núñez-Domínguez, R., Ramírez-Valverde, R., Ruíz-Flores, A., Zepeda-Batista, J.L., Parra-Bracamonte, G.M., Núñez-Domínguez, R., Ramírez-Valverde, R., Ruíz-Flores, A. :
Screening genetic diseases prevalence in Braunvieh cattle. Trop Anim Health Prod 51:25-31, 2019. Pubmed reference: 30014197. DOI: 10.1007/s11250-018-1655-y.
2010 Grünberg, W., Sacchetto, R., Wijnberg, I., Neijenhuis, K., Mascarello, F., Damiani, E., Drögemüller, C. :
Pseudomyotonia, a muscle function disorder associated with an inherited ATP2A1 (SERCA1) defect in a Dutch Improved Red and White cross-breed calf. Neuromuscul Disord 20:467-70, 2010. Pubmed reference: 20547455. DOI: 10.1016/j.nmd.2010.04.010.
2008 Charlier, C., Coppieters, W., Rollin, F., Desmecht, D., Agerholm, JS., Cambisano, N., Carta, E., Dardano, S., Dive, M., Fasquelle, C., Frennet, JC., Hanset, R., Hubin, X., Jorgensen, C., Karim, L., Kent, M., Harvey, K., Pearce, BR., Simon, P., Tama, N., Nie, H., Vandeputte, S., Lien, S., Longeri, M., Fredholm, M., Harvey, RJ., Georges, M. :
Highly effective SNP-based association mapping and management of recessive defects in livestock. Nat Genet 40:449-54, 2008. Pubmed reference: 18344998. DOI: 10.1038/ng.96.

Edit History

  • Created by Frank Nicholas on 30 Mar 2008
  • Changed by Frank Nicholas on 07 Oct 2011
  • Changed by Frank Nicholas on 09 Dec 2011
  • Changed by Frank Nicholas on 21 May 2013
  • Changed by Frank Nicholas on 16 Aug 2013
  • Changed by Imke Tammen2 on 06 Mar 2024