OMIA:000618-9544 : Macrostomus in Macaca mulatta
In other species: rabbit
Categories: Craniofacial phene
Possibly relevant human trait(s) and/or gene(s) (MIM number): 154500 (trait)
Links to MONDO diseases: No links.
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.
|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.|
- Created by Frank Nicholas on 05 Apr 2011
- Changed by Frank Nicholas on 12 Oct 2011