OMIA:001978-9913 : Increased muscular tonus, congenital in Bos taurus (taurine cattle)
Categories: Muscle phene
Links to MONDO diseases:
- MONDO:0044682: MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome
Mendelian trait/disorder: yes
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2015
Cross-species summary: Arthrogryposis, distal, type 1B
Species-specific description: Illustrating the enormous power of genomic tools, Wiedemar et al. (2015) were able to identify a likely causal mutation for a previously unrecorded disease phenotype in just a single calf.
Molecular basis: Wiedemar et al. (2015) reported a likely causal mutation: "a SNP replacing a thymine by a guanine on bovine chromosome 5 at bp-position 65,787,153. It was clearly identified as a de novo mutation as it was absent in both parents, but present in the calf . . . . Interestingly, this SNP situated in exon 13 of the myosin binding protein C slow type (MYBPC1) gene at position 885 of the open reading frame (c.885T>G) is predicted to lead to an amino acid exchange from leucine to arginine of the encoded MYBPC1 protein sequence at position 295 (p.Leu295Arg)".
Have human generated variants been created, e.g. through genetic engineering and gene editing
Clinical features: The single known case was described by Wiedemar et al. (2015) as "A 2-week-old female calf was referred to the Clinic for Ruminants at the Vetsuisse Faculty, University of Berne, Switzerland, with difficulty standing and muscle tremors since birth. Prior treatment by the private veterinarian with selenium, calcium, magnesium, and vitamins had not led to any improvement. The general status at arrival to the clinic was slightly reduced, though the calf was alert and attentive, and tachycardia (152/min) and tachypnea (80/min) were noticeable. Examination of the skin revealed an infected lesion on the fetlock of the left forelimb and several superficial lesions. Gastrointestinal, respiratory, and urinary tracts were without important abnormalities. The musculoskeletal system was normally developed, no atrophy was noticed, but the calf remained in a recumbent position unless lifted up and helped to stand. When standing, it showed tremor, ataxia, and could only move backward with hypermetria in the hind limbs and tip-toe-standing of the front limbs (Fig 1). Consciousness was normal but the calf was unable to orientate itself in its surroundings. Cranial nerve examination showed no deficits. Muscle tone was generally increased in the limbs. No painful reaction was noticed upon palpation of the limbs. The spinal reflexes were generally reduced. Sensibility was normal in the neck and shoulder area, but reduced in the limbs. The head and neck could be moved in all directions and the ears were symmetrical and loose. The clinical signs were localized in the peripheral nervous or musculoskeletal system".
Holstein Friesian (Cattle) (VBO_0000239).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|MYBPC1||myosin binding protein C, slow type||Bos taurus||5||NC_037332.1 (65398341..65500282)||MYBPC1||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
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||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|217||Holstein Friesian (Cattle)||Arthrogryposis, distal, type 1B||MYBPC1||missense||Naturally occurring variant||ARS-UCD1.2||5||g.65446598T>G||c.884T>G||p.(L295R)||2015||26289121||Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool|
Cite this entry
|2015||Wiedemar, N., Riedi, A.K., Jagannathan, V., Drögemüller, C., Meylan, M. :|
|Genetic abnormalities in a calf with congenital increased muscular tonus. J Vet Intern Med 29:1418-21, 2015. Pubmed reference: 26289121. DOI: 10.1111/jvim.13599.|
- Created by Frank Nicholas on 31 Dec 2015
- Changed by Frank Nicholas on 31 Dec 2015
- Changed by Imke Tammen2 on 08 Oct 2023