THE MOTTLED GENE IS THE MOUSE HOMOLOG OF THE MENKES DISEASE GENE
THE MOTTLED GENE IS THE MOUSE HOMOLOG OF THE MENKES DISEASE GENE
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DOI：
10.1038/ng0494-369
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发表时间：
1994-04-01
期刊：
影响因子：
30.8
通讯作者：
GITSCHIER, J
中科院分区：
文献类型：
--
作者：
LEVINSON, B;VULPE, C;GITSCHIER, J
斑驳鼠已被提出作为门克斯病的动物模型，门克斯病是一种铜运输的X连锁疾病。最近分离出的一种导致门克斯病的铜转运三磷酸腺苷酶基因使我们能够验证这一假设。在这里，我们报道了该基因的小鼠同源物的分离和序列。我们发现两个斑驳（Mo）等位基因，斑驳（Mo-dp）和斑点（Mo-blo），在小鼠mRNA中有异常，Mo-dp有部分基因缺失。这些研究证明了斑驳小鼠是门克斯病的小鼠模型，为今后的生化和治疗研究提供了基础。
The mottled mouse has been proposed as an animal model for Menkes disease, an X- linked disorder of copper transport. The recent isolation of a copper-transporting ATPase gene responsible for Menkes disease has allowed us to test this hypothesis. Here we report the isolation and sequence of the mouse homologue of this gene. We show that two mottled (Mo) alleles, dappled (Mo-dp) and blotchy (Mo-blo), have abnormalities in the murine mRNA and that Mo-dp has a partial gene deletion. These studies prove that the mottled mouse is the murine model for Menkes disease, providing the basis for future biochemical and therapeutic studies.