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OMIA:000618-9986 : Macrostomus in Oryctolagus cuniculus (rabbit)

In other species: Rhesus monkey

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

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

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2005). OMIA:000618-9986: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

Reference

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