Targeted disruption of Mib2 causes exencephaly with a variable penetrance.
Genesis. 2007 Nov;45(11):722-7. doi:10.1002/dvg.20349
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摘要
Mib1 and Mib2 ubiquitin ligases are very similar in their domain construction. They partake in the Notch signaling pathway by ubiquitinating the Notch receptors Delta and Jagged prior to endocytosis. We have created a targeted mutation of Mib2 and show that its phenotype is a variable penetrance, failure to close the cranial neural tube. The penetrance depends on the genetic background but it appears that Mib2 is not completely essential in mouse development.
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基因功能
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原始数据
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文献解读
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