title: Targeted disruption of Mib2 causes exencephaly with a variable penetrance.
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.
authors.forename: Jiang I
authors.initials: JI
authors.lastname: Wu
authors.forename: Rashmi
authors.initials: R
authors.lastname: Rajendra
authors.forename: Julius C
authors.initials: JC
authors.lastname: Barsi
authors.forename: Larissa
authors.initials: L
authors.lastname: Durfee
authors.forename: Eva
authors.initials: E
authors.lastname: Benito
authors.forename: Guang
authors.initials: G
authors.lastname: Gao
authors.forename: Mariam
authors.initials: M
authors.lastname: Kuruvilla
authors.forename: Radmila
authors.initials: R
authors.lastname: Hrdlicková
authors.forename: Andrew S
authors.initials: AS
authors.lastname: Liss
authors.forename: Karen
authors.initials: K
authors.lastname: Artzt
mesh_terms: D000818:Animals; D004622:Embryo, Mammalian / Q000196:embryology / Q000378:metabolism; D017353:Gene Deletion; D005786:Gene Expression Regulation; D018390:Gene Targeting; D051379:Mice; D009436:Neural Tube Defects / Q000196:embryology / Q000235:genetics* / Q000473:pathology*; D019683:Penetrance; D044767:Ubiquitin-Protein Ligases / Q000172:deficiency* / Q000235:genetics* / Q000378:metabolism
chemical_list: C502454:Mib2 protein, mouse; D044767:Ubiquitin-Protein Ligases