Candidate genes located within the Co.003 GGA Z 175,915 nt CR: gene location, status, function and associated diseasesA.

AAlthough no gene found within this region is a strong candidate for the coloboma mutation, based on functionality in other vertebrates alone, several are implicated in mechanisms that may influence the phenotype.BUCSC genome browser was utilized to identify gene location and percent identity to the human protein. The gene (chicken) coordinate location is based upon the November 2011 Gallus gallus assembly (galGal4). Chromosomal synteny was identified in both human Hsa 5 (reference genome February 2009) and mouse Mmu 13 (reference genome July 2007).CReferences for gene function are as follows: SLC30A5[62]–[68]; CENPH[69], [70]; MRPS36[71]; and CDK7[72]–[75].DInformation for knockout mouse phenotype and affected anatomical systems were obtained from the Mouse Genome Informatics (MGI, http://www.informatics.jax.org/), the International Knockout Mouse Consortium (IKMC, http://www.knockoutmouse.org/), and the Rat Genome Database (RGD) PhysGen Knockouts (http://rgd.mcw.edu/).EReferences for the associated disease are as follows: SLC30A5: human: http://rgd.mcw.edu/ID=1315825, mouse [76]; CENPH: human [77], [78], mouse: http://rgd.mcw.edu/ID=1312618; MRPS36: human: http://rgd.mcw.edu/ID=1319596, mouse [79]; and CDK7: human [80], mouse: http://rgd.mcw.edu/ID=734280.