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Targeted disruption of Mib2 causes exencephaly with a variable penetrance |
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| Authors: | Wu Jiang I Rajendra Rashmi Barsi Julius C Durfee Larissa Benito Eva Gao Guang Kuruvilla Mariam Hrdlicková Radmila Liss Andrew S Artzt Karen |
| Affiliation: | 1. Howard Hughes Medical Institute, Stanford University, Stanford, California;2. GSF, National Research Center for Environment and Health, Institute of Experimental Genetics, Neuherberg, Germany;3. Institute for Cellular and Molecular Biology, University of Texas at Austin, Austin, Texas;4. Instituto de Neurociencias de Alicanteniver, Universidad Miguel Hernandez, Apartado de correos 18, E‐03550, Sant Joan, Alicante, Spain |
| 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. |
| Keywords: | Mib2 exencephaly neural tube closure MMU4 ubiquitin ligase |
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