Mucopolysaccharidosis IIIB
- Phene ID
- 2869
- Name
- Mucopolysaccharidosis IIIB
- Phene Name
- N/A
- OMIA ID
- 1342
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2007
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 202 | Mucopolysaccharidosis IIIB | 388390317 | 1 | 19 | NC_037346.1:g.42624367G>A | NM_001102226.2:c.1354G>A | NP_001095696.1:p.(E452K) |
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Santa Gertrudis (Cattle) | 120 | 9913 | http://purl.obolibrary.org/obo/VBO_0000368 |
Karageorgos et al. (2007): "All affected animals were derived from a 'closed herd' into which no new genetic material had been brought for approximately 30 years. ... The herd consisted of 1300 breeder cows and bulls were used at 3%. Bulls were used for four seasons; hence there was ample scope for inbreeding to occur. Under these breeding conditions about 4–5 clinically affected animals were observed each year ... ." Breed information was kindly provided by L. Taylor.
In what must be a sign of the times, Karageorgos et al. (2007) documented the first reported occurrence of this disorder in cattle and, in the same paper, also reported its molecular basis; in this case a missense mutation E452K (c.1354G>A) in the gene for alpha-N-acetylglucosaminidase (NAGLU).