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)
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.
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