Albinism is a rare genetic condition associated to a variable hypopigmentation phenotype, which can affect the pigmentation of only the eyes or both the eyes and the skin/hair, resulting in ocular (OA) or oculocutaneous albinism (OCA). Four forms of OCA and one of OA are known, associated to TYR (OCA1), OCA2 (OCA2), TYRP1 (OCA3), SLC45A2 (OCA4) and GPR143 (OA1) loci, respectively. Syndromic forms of albinism are the Hermansky-Pudlak syndrome (HP1-9) and the Chediak-Higashi syndrome (CHS1). Currently, at least 15 genes are associated to albinism. Murine counterparts exist, and, hence, mouse mutant models of all these different types of albinism have been detected and/or produced and have contributed to our understanding of the albinism phenotype and the associated common visual deficits. In addition, for mouse models of OCA1, hearing deficits have been also reported. Several observed spontaneous and genetically-modified mouse mutant mice produced will be reviewed and discussed, focusing in those that have mostly contributed to our current knowledge of the albino condition.
In addition, and greatly facilitated by the international collaborative efforts within the Pigment Cell community that have been instrumental in the validation phases of the experiments, we have initiated an approach to eventually attempt to genotype all known genetic mutations associated to albinism in any of the 15 loci mentioned above. Genetically diagnosed samples, from albino patients from France (in Bordeaux: Alain Taïeb, Benoît Arveiler; in Marseille: Robert Aquaron), Italy (in Milan: Vittoria Schiaffino), Spain (in Madrid: Carmen Ayuso) and Japan (in Yamagata: Tamio Suzuki), have served to define a set of mutations that can now be easily detected thanks to sophisticated innovative equipments, in collaboration with the laboratory of Angel Carracedo (University of Santiago de Compostela, Spain). Examples of these efforts will be presented and discussed.