OMIA 000618-9986 : Macrostomus in Oryctolagus cuniculus

In other species: Rhesus monkey

Possibly relevant human trait(s) and/or gene(s) (MIM number): 154500 (trait)

Mendelian trait/disorder: yes

Considered a defect: yes

Key variant known: no

Cross-species summary: Treacher Collins syndrome

Inheritance: Fox and Crary (1980) claimed strong evidence of autosomal recessive inheritance, with incomplete penetrance (30%)


1979 Fox, RR., Crary, DD. :
Hereditary macrostomus in the rabbit: a model for Treacher Collins syndrome, one form of mandibulofacial dysostosis. J Hered 70:369-72, 1979. Pubmed reference: 544686.

Edit History

  • Created by Frank Nicholas on 06 Sep 2005