OMIA 000618-9544 : Macrostomus in Macaca mulatta |
In other species:
rabbit
Possibly relevant human trait(s) and/or gene(s) (MIM number):
154500
Mendelian trait/disorder:
yes
Considered a defect:
yes
Key variant known:
no
Cross-species summary:
Treacher Collins syndrome
Molecular basis:
Shows et al. (2006) reported a substantially reduced level of mRNA from the candidate gene (TCOF1), but there was no difference in coding and splice-site nucleotide sequence between affected and normal monkeys.
Reference
| 2006 | Shows, KH., Ward, C., Summers, L., Li, L., Ziegler, GR., Hendrickx, AG., Shiang, R. : | |
| Reduced TCOF1 mRNA level in a rhesus macaque with Treacher Collins-like syndrome: further evidence for haploinsufficiency of treacle as the cause of disease. Mamm Genome 17:168-77, 2006. Pubmed reference: 16465596. DOI: 10.1007/s00335-005-0079-y. |
Edit History
- Created by Frank Nicholas on 05 Apr 2011
- Changed by Frank Nicholas on 12 Oct 2011