OMIA:002150-9913 : Syndrome des veaux tourneurs (Turning calves syndrome) in Bos taurus (taurine cattle)

Categories: Nervous system phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 616505 (trait) , 619303 (trait) , 610826 (gene)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2017

Mapping: Duchesne et al. (2017): "Genotyping of 12 affected calves followed by homozygosity mapping identified a single 3.1 Mb homozygous interval at the telomeric end of bovine chromosome 7".

Molecular basis: Duchesne et al. (2017) identified SNPs in the mapped candidate region by comparison of whole-genome sequence of two homozygous affecteds, one heterozygote and one homozygote normal. Filtering of those SNPs by consistency with presumed genotype based on pedigree, with occurrence only within this breed, and by severity of presumed function enabled Duchesne et al. (2017) to identifiy a "C/T SLC25A46 substitution [c.376C>T that] leads to replacement of an arginine by a cysteine [p.Arg126Cys], in the first transmembrane helix of the protein" as a likely causal variant.

Clinical features: Duchesne et al. (2017): "In the late 2000’s, such an outbreak was described in the French Rouge-des-Prés breed with a new sensorimotor polyneuropathy named “Syndrome des veaux tourneurs” (“Turning calves syndrome”) because of a propensity of the affected calves to turn around themselves before falling down [Timsit et al., 2011]. This neurodegenerative disease is characterized by an early onset of ataxia, especially of hindlimbs, and paraparesia affecting young calves (2–6 weeks old). Despite symptomatic care, nervous symptoms progress over the next months, leading to repetitive falls and ultimately resulting in permanent recumbency and inevitably euthanasia. Degenerative lesions involve both the general proprioceptive sensory and upper motor neuron motor systems [Timsit et al., 2011]." Also, Duchesne et al. (2017) "created a mouse knock-out model and determined that disruption of this gene dramatically disturbed mitochondrial dynamics in various organs that resulted in altered metabolism and early death, indirectly confirming the gene identification in cattle."

Breed: Rouge des prés, France (Cattle) (VBO_0003581).
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
SLC25A46 solute carrier family 25 member 46 Bos taurus 7 NC_037334.1 (109737223..109763876) SLC25A46 Homologene, Ensembl , NCBI gene


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 second, third etc relevant column headers.

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
992 Rouge des prés, France (Cattle) Syndrome des veaux tourneurs (Turning calves syndrome) SLC25A46 missense Naturally occurring variant ARS-UCD1.2 7 g.109742796C>T c.376C>T p.(R126C) 2017 28376083

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2020). OMIA:002150-9913: 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.

2017 Duchesne, A., Vaiman, A., Castille, J., Beauvallet, C., Gaignard, P., Floriot, S., Rodriguez, S., Vilotte, M., Boulanger, L., Passet, B., Albaric, O., Guillaume, F., Boukadiri, A., Richard, L., Bertaud, M., Timsit, E., Guatteo, R., Jaffrézic, F., Calvel, P., Helary, L., Mahla, R., Esquerré, D., Péchoux, C., Liuu, S., Vallat, J.M., Boichard, D., Slama, A., Vilotte, J.L. :
Bovine and murine models highlight novel roles for SLC25A46 in mitochondrial dynamics and metabolism, with implications for human and animal health. PLoS Genet 13:e1006597, 2017. Pubmed reference: 28376083. DOI: 10.1371/journal.pgen.1006597.
2011 Timsit, E., Albaric, O., Colle, M.A., Costiou, P., Cesbron, N., Bareille, N., Assié, S. :
Clinical and histopathologic characterization of a central and peripheral axonopathy in Rouge-des-prés (Maine Anjou) calves. J Vet Intern Med 25:386-92, 2011. Pubmed reference: 21281347. DOI: 10.1111/j.1939-1676.2010.0662.x.

Edit History

  • Created by Frank Nicholas on 20 May 2018
  • Changed by Frank Nicholas on 20 May 2018
  • Changed by Frank Nicholas on 23 May 2018
  • Changed by Frank Nicholas on 15 May 2020