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OMIA:000618-9544 : Macrostomus in Macaca mulatta (Rhesus monkey)

In other species: rabbit

Categories: Craniofacial phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 154500 (trait)

Mendelian trait/disorder: yes

Disease-related: 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.

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2011). OMIA:000618-9544: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

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