Increased muscular tonus, congenital
Phenotype Details
- Phene ID
- 3802
- Name
- Increased muscular tonus, congenital
- Phene Name
- N/A
- OMIA ID
- 1978
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2015
Linked Variants
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 217 | Arthrogryposis, distal, type 1B | 388267718 | 1 | 5 | NC_037332.1:g.65446598T>G | NM_001110773.1:c.884T>G | NP_001104243.1:p.(L295R) |
Linked Breeds
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Holstein Friesian (Cattle) | 73 | 9913 | http://purl.obolibrary.org/obo/VBO_0000239 |
Summary
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 Genetics
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)".