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Targeted disruption of Mib2 causes exencephaly with a variable penetrance.
Genesis 45, 722-727 (2007)
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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Publication type
Article: Journal article
Document type
Scientific Article
Keywords
Mib2; exencephaly; neural tube closure; MMU4; ubiquitin ligase
Language
english
Publication Year
2007
HGF-reported in Year
0
ISSN (print) / ISBN
1526-954X
e-ISSN
1526-968X
Quellenangaben
Volume: 45,
Issue: 11,
Pages: 722-727
Publisher
Wiley
Reviewing status
Peer reviewed
Institute(s)
Institute of Experimental Genetics (IEG)
POF-Topic(s)
30201 - Metabolic Health
Research field(s)
Genetics and Epidemiology
PSP Element(s)
G-500600-003
PubMed ID
17987667
WOS ID
000251636300008
Erfassungsdatum
2007-12-10