OMIA 000219-9031 : Coloboma in Gallus gallus

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

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

Mendelian trait/disorder: yes

Mode of inheritance: Z-linked recessive

Considered a defect: yes

Key variant known: no

Cross-species summary: Colobomas are congenital eye abnormalities where normal tissue in or around the eye are missing.

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)

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.
2022 Jaruga, A., Ksiazkiewicz, J., Kuzniarz, K., Tylzanowski, P. :
Orofacial cleft and mandibular prognathism-human genetics and animal models. Int J Mol Sci 23:953, 2022. Pubmed reference: 35055138. DOI: 10.3390/ijms23020953.
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