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新的Notch2突变等位基因的产生。

Generation of new Notch2 mutant alleles.

作者信息

McCright Brent, Lozier Julie, Gridley Thomas

机构信息

The Jackson Laboratory, Bar Harbor, Maine 04609, USA.

出版信息

Genesis. 2006 Jan;44(1):29-33. doi: 10.1002/gene.20181.

Abstract

The Notch signaling pathway is an evolutionarily conserved intercellular signaling mechanism, and mutations in its components disrupt embryonic development in many organisms and cause inherited diseases in humans. We previously described construction and analysis of a hypomorphic allele of the Notch2 gene. Homozygosity for this allele leads to embryonic and perinatal lethality due to cardiovascular and kidney defects. We report here novel Notch2 mutant alleles generated by gene targeting in embryonic stem cells, including a conditional null allele in which exon 3 of the Notch2 gene is flanked by loxP sequences. These new Notch2 mutant alleles expand the set of tools available for studying the myriad roles of the Notch pathway during mammalian development and will enable analysis of Notch2 function at additional stages of embryogenesis and in adult mice.

摘要

Notch信号通路是一种在进化上保守的细胞间信号传导机制,其组成成分的突变会破坏许多生物体的胚胎发育,并导致人类的遗传性疾病。我们之前描述了Notch2基因低表达等位基因的构建和分析。该等位基因的纯合性会由于心血管和肾脏缺陷导致胚胎期和围产期致死。我们在此报告通过胚胎干细胞基因打靶产生的新型Notch2突变等位基因,包括一个条件性无效等位基因,其中Notch2基因的外显子3两侧为loxP序列。这些新的Notch2突变等位基因扩展了用于研究Notch通路在哺乳动物发育过程中众多作用的工具集,并将能够在胚胎发生的其他阶段和成年小鼠中分析Notch2的功能。

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