OMIA 000629-9986 : Megacolon in Oryctolagus cuniculus

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

Possibly relevant human trait(s) and/or gene(s) (MIM number): 600155

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.

References


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 Journal of Veterinary Medicine - Series A 42:549-559, 1995. Pubmed reference: 8822192.
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