Moore K J
Trends Genet. 1995 Nov;11(11):442-8. doi: 10.1016/s0168-9525(00)89143-x.
The murine microphthalmia gene (mi) is one of the last multi-allelic, classic coat-colour genes to be cloned in the mouse and, similar to many of these genes, encodes an exciting molecule that is is involved in multiple developmental processes. The existence of the numerous alleles has allowed the molecular dissection of the function of the MI bHLH-Zip transcription factor in vivo and offers a unique opportunity to understand the function of a multimeric transcription factor throughout development and in many tissues. It is also the gene mutated in some patients with the human deafness syndrome, Waardenburg's syndrome type II, and hence helps to understand this syndrome.
小鼠小眼基因(mi)是小鼠中最后一批被克隆的多等位基因经典毛色基因之一,与许多此类基因相似,它编码一种参与多个发育过程的重要分子。众多等位基因的存在使得在体内对MI bHLH-Zip转录因子的功能进行分子剖析成为可能,并提供了一个独特的机会来了解多聚体转录因子在整个发育过程和许多组织中的功能。它也是一些患有人类耳聋综合征(II型瓦登伯革氏综合征)患者中发生突变的基因,因此有助于了解这种综合征。