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Omi 是染色体 10 上的隐性突变,是 Ostm1 的一个新等位基因。

Omi, a recessive mutation on chromosome 10, is a novel allele of Ostm1.

机构信息

Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK.

出版信息

Mamm Genome. 2013 Feb;24(1-2):44-53. doi: 10.1007/s00335-012-9438-7. Epub 2012 Nov 17.

Abstract

Large-scale N-ethyl-N-nitrosourea (ENU) mutagenesis has provided many rodent models for human disease. Here we describe the initial characterization and mapping of a recessive mutation that leads to degeneration of the incisors, failure of molars to erupt, a grey coat colour, and mild osteopetrosis. We mapped the omi mutation to chromosome 10 between D10Mit214 and D10Mit194. The Ostm1 gene is a likely candidate gene in this region and the grey-lethal allele, Ostm1 ( gl ), and omi mutations fail to complement each other. We show that om/om mice have reduced levels of Ostm1 protein. To date we have not been able to identify the causative mutation. We propose that omi is a novel hypomorphic mutation affecting Ostm1 expression, potentially in a regulatory element.

摘要

大规模的 N-乙基-N-亚硝脲(ENU)诱变产生了许多用于人类疾病研究的啮齿动物模型。在这里,我们描述了一个隐性突变的初步特征和定位,该突变导致切牙退化、磨牙无法萌出、灰色被毛颜色和轻度骨质硬化症。我们将 omi 突变定位在染色体 10 上 D10Mit214 和 D10Mit194 之间。Ostm1 基因是该区域的一个候选基因,灰色致死等位基因 Ostm1 ( gl ) 和 omi 突变不能互补。我们表明 om/om 小鼠 Ostm1 蛋白水平降低。到目前为止,我们还未能确定致病突变。我们提出 omi 是一种影响 Ostm1 表达的新型功能丧失突变,可能在调节元件中。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2691/3560959/a0d41b644a77/335_2012_9438_Fig1_HTML.jpg

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