Targeted disruption of Mib2 causes exencephaly with a variable penetrance.
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.
Wu
Jiang I
JI
Rajendra
Rashmi
R
Barsi
Julius C
JC
Durfee
Larissa
L
Benito
Eva
E
Gao
Guang
G
Kuruvilla
Mariam
M
Hrdlicková
Radmila
R
Liss
Andrew S
AS
Artzt
Karen
K
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
C502454:Mib2 protein, mouse; D044767:Ubiquitin-Protein Ligases