Arthrogryposis multiplex congenita, AGRN-related
Phenotype Details
- Phene ID
- 4078
- Name
- Arthrogryposis multiplex congenita, AGRN-related
- Phene Name
- Bovine Hereditary Arthrogyposis Multiplex Congentia
- OMIA ID
- 2135
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2011
Linked Variants
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 934 | Arthrogryposis multiplex congenita, AGRN-related | 388272187 | 1 | 16 | N/A | N/A | N/A |
Linked Breeds
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Angus (Cattle) | 44 | 9913 | http://purl.obolibrary.org/obo/VBO_0000104 |
Summary
Also known as Curly Calf Syndrome
Molecular Genetics
Deletion: a 23,363 bp deletion "encompasses the entirety of the ISG15 ubiquitin-like modifier (ISG15) gene . . . one or both of the 5' regulatory region of the hairy and enhancer split 4 (HES4) and of the agrin (AGRN) gene and of the first two exons of the AGRN gene" (Beever and Marron, 2011)
Genetic Test
The causal mutation described above, upon which a DNA test is based, was patented in 2009 and published in 2011 (Beever and Marron, 2011).