Dwarfism, ACAN-related
- Phene ID
- 2351
- Name
- Dwarfism, ACAN-related
- Phene Name
- Bulldog calf; chondrodysplasia
- OMIA ID
- 1271
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2007
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 429 | Bulldog calf | 8763869 | 1 | 21 | g.20377856C>T | c.-198C>T | N/A |
| 590 | Bulldog calf | 8763869 | 1 | 21 | g.20422104_20422105insGGCA | c.2266_2267insGGCA | N/A |
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Dexter (Cattle) | 36 | 9913 | http://purl.obolibrary.org/obo/VBO_0000193 |
| Highland (Cattle) | 346 | 9913 | http://purl.obolibrary.org/obo/VBO_0000234 |
Information about ACAN related dwarfism in Bos indicus cattle was previously listed here and was moved to 'OMIA:001271-9915 : Dwarfism, ACAN-related in Bos indicus' [19/06/2023]
After homozygosity mapping in candidate regions, mutation screening in the aggrecan (ACAN) gene "revealed a 4-bp insertion in exon 11 (2266-2267insGGCA) (called BD1 for diagnostic testing) and a second, rarer transition in exon 1 (-198C>T) (called BD2) that cosegregate with the disorder" (Cavanagh et al., 2007). Cabrera et al. (2016) reported a still-born calf with "Grossly evident chondrodystrophic dwarfism with hydrocephalus, compatible with so-called bulldog calf malformation", the result of a mating between a miniature Scottish Highland bull and cow, each of which was shown to be heterozygous for the same BD1 mutation in ACAN reported by Cavanagh et al. (2007) as being causal of bulldog dwarfism in the Dexter breed. Struck et al. (2018) reported a different likely causal variant (ACAN:c.5686insC; p.Val1898fsTer9), homozygosity for which results in a very similar type of dwarfism in the Miniature Zebu breed: the variant was "homozygous in the affected calf and heterozygous in its [Miniature Zebu] parents". See 'OMIA:001271-9915 : Dwarfism, ACAN-related in Bos indicus' for details.