OMIA 000219-9031 : Coloboma in Gallus gallus

In other species: cattle , llama , horse , dog , domestic cat

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 120200 , 120300 , 120330 , 120400 , 120430 , 120433 , 216800 , 216820 , 243910

Mendelian trait/disorder: yes

Mode of inheritance: Z-linked recessive

Considered a defect: yes

Key variant known: no

Species-specific symbol: co

Mapping: Robb et al. (2011) mapped this trait to chromosome GGA Zp (19,868,747-21,363,270)

Clinical features: "Hemizygous female mutants (Z-/W) are moderately to severely dwarfed with mild to severe cleft palate, some are lacking preaxial digits or have truncated wings and legs; some are edemic; the expression may be highly variable even with the same parents, temperature sensitive phenotypic variability" (Robb et al. (2011)


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.
2012 Robb, E.A., Delany, M.E. :
Case study of sequence capture enrichment technology: identification of variation underpinning developmental syndromes in an amniote model. Genes (Basel) 3:233-47, 2012. Pubmed reference: 24704915. DOI: 10.3390/genes3020233.
2011 Robb, EA., Gitter, CL., Cheng, HH., Delany, ME. :
Chromosomal mapping and candidate gene discovery of chicken developmental mutants and genome-wide variation analysis of MHC congenics. J Hered 102:141-56, 2011. Pubmed reference: 21273214. DOI: 10.1093/jhered/esq122.
2004 Cardona, CJ., Plumer, K. :
Colobomas of the iris in a flock of rosecomb bantam chickens. Avian Dis 48:686-90, 2004. Pubmed reference: 15529996.
1970 Abbott, U.K., Craig, R.M., Bennett, E.B. :
Sex-linked coloboma in the chicken Journal of Heredity 61:95-102, 1970. Pubmed reference: 4987460.

Edit History

  • Created by Frank Nicholas on 25 Feb 2011
  • Changed by Frank Nicholas on 27 Nov 2011