OMIA:000629-9986 : Megacolon in Oryctolagus cuniculus (rabbit)

In other species: domestic cat , horse , pig , taurine cattle

Categories: Pigmentation phene , Nervous system phene , Digestive / alimentary phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 600155 (trait) , 277580 (trait) , 600501 (trait) , 131244 (gene)

Mendelian trait/disorder: unknown

Considered a defect: yes

Cross-species summary: Also known as Hirschsprung disease. A disorder in which the large intestine (caecum, colon and sometimes the rectum) undergoes a large dilation and fills with faecal mass. Associated with incomplete migration of nerve cells to the intestine during embryonic development, resulting in lack of peristalsis and hence a build-up of faecal material.

Molecular basis: Fontanesi et al. (2015) reported enticing associations between megacolon and levels of KIT gene expression but were not able to find a causal mutation in the KIT gene.

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2015). OMIA:000629-9986: Online Mendelian Inheritance in Animals (OMIA) [dataset].


Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.

2014 Fontanesi, L., Vargiolu, M., Scotti, E., Latorre, R., Faussone Pellegrini, M.S., Mazzoni, M., Asti, M., Chiocchetti, R., Romeo, G., Clavenzani, P., De Giorgio, R. :
The KIT gene is associated with the english spotting coat color locus and congenital megacolon in Checkered Giant rabbits (Oryctolagus cuniculus). PLoS One 9:e93750, 2014. Pubmed reference: 24736498. DOI: 10.1371/journal.pone.0093750.
1995 Bodeker, D., Turck, O., Loven, E., Wieberneit, D., Wegner, W. :
Pathophysiological and functional aspects of the megacolon-syndrome of homozygous spotted rabbits Zentralbl Veterinarmed A 42:549-59, 1995. Pubmed reference: 8822192. DOI: 10.1111/j.1439-0442.1995.tb00410.x.
Wieberneit, D., Wegner, W. :
Albino rabbits can suffer from Megacolon-Syndrome when they are homozygous for the “English-spot” gene (En En). World Rabbit Science 3:19-26, 1995.

Edit History

  • Created by Frank Nicholas on 06 Sep 2005
  • Changed by Frank Nicholas on 31 Dec 2015