Article

Targeted disruption of Mib2 causes exencephaly with a variable penetrance.

genesis (impact factor: 2.53). 12/2007; 45(11):722-7. DOI:10.1002/dvg.20349 pp.722-7
Source: PubMed

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.

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Keywords

cranial neural tube
 
domain construction
 
genetic background
 
Jagged
 
Mib1
 
Mib2 ubiquitin ligases
 
Notch receptors Delta
 
Notch signaling pathway
 
ubiquitinating
 
variable penetrance