Article ID Journal Published Year Pages File Type
2082311 Drug Discovery Today: Disease Models 2013 6 Pages PDF
Abstract

A diverse range of chicken lines harbouring highly-penetrant, spontaneously-occurring mutations with an ocular phenotype have been identified over the past 40 years. These lines serve as models for human monogenic disorders including ocular albinism, retinal dystrophies such as Leber's congenital amaurosis, and coloboma, as well as the common complex traits glaucoma and myopia. Recent technical advances in gene targeting, mapping quantitative trait loci, and phenotypic characterisation of eye phenotypes offer exciting prospects for exploiting chicken genomic resources in fundamental and translational eye research.

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