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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.

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