Dwarfism, proportionate, with inflammatory lesions
Phenotype Details
- Phene ID
- 3330
- Name
- Dwarfism, proportionate, with inflammatory lesions
- Phene Name
- N/A
- OMIA ID
- 1686
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2012
Linked Variants
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 376 | Dwarfism, proportionate, with inflammatory lesions | 177497888 | 1 | 3 | NC_037330.1:g.95015373T>C | NM_001077953.1:c.124-2A>G | N/A |
Linked Breeds
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Belgian Blue (Cattle) | 49 | 9913 | http://purl.obolibrary.org/obo/VBO_0000139 |
Inheritance
This form of proportionate dwarfism is autosomal recessive. However, because up to 1/3 of affected calves die of severe inflammation (mainly pneumonia) within 6 months of birth, the expected autosomal recessive segregation ratios are not seen in surviving dwarf calves (Sartelet et al., 2012). The disorder is lethal in the sense that affected animals are never bred.
Molecular Genetics
Sartelet et al. (2012) identified the causative mutation as a "c124-2A>G splice variant in intron 1 of the RNF11 gene". This gene encodes RING finger protein 11, which is a key regulator in the A20 complex of the inflammatory response.