Targeted disruption of Mib2 causes exencephaly with a variable penetrance

Jiang I. Wu, Rashmi Rajendra, Julius C. Barsi, Larissa Durfee, Eva Benito, Guang Gao, Marram Kuruvilla, Radmila Hrdličková, Andrew S. Liss, Karen Artzt

Research output: Contribution to journalArticle

8 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)722-727
Number of pages6
JournalGenesis
Volume45
Issue number11
DOIs
Publication statusPublished - Nov 2007

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Keywords

  • Exencephaly
  • Mib2
  • MMU4
  • Neural tube closure
  • Ubiquitin ligase

ASJC Scopus subject areas

  • Genetics

Cite this

Wu, J. I., Rajendra, R., Barsi, J. C., Durfee, L., Benito, E., Gao, G., ... Artzt, K. (2007). Targeted disruption of Mib2 causes exencephaly with a variable penetrance. Genesis, 45(11), 722-727. https://doi.org/10.1002/dvg.20349