Targeted disruption of Mib2 causes exencephaly with a variable penetrance

Jiang I. Wu; Rashmi Rajendra; Julius C. Barsi; Larissa Durfee; Eva Benito; Guang Gao; Marram Kuruvilla; Radmila Hrdličková; Andrew S. Liss; Karen Artzt

doi:10.1002/dvg.20349

Targeted disruption of Mib2 causes exencephaly with a variable penetrance

Jiang I. Wu, Rashmi Rajendra, Julius C. Barsi, Larissa Durfee, Eva Benito, Guang Gao, Marram Kuruvilla, Radmila Hrdličková, Andrew S. Liss, Karen Artzt

Research output: Contribution to journal › Article › peer-review

11 Scopus citations

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.

Original language	English (US)
Pages (from-to)	722-727
Number of pages	6
Journal	Genesis
Volume	45
Issue number	11
DOIs	https://doi.org/10.1002/dvg.20349
State	Published - Nov 2007

Keywords

Exencephaly
MMU4
Mib2
Neural tube closure
Ubiquitin ligase

ASJC Scopus subject areas

Genetics
Endocrinology
Cell Biology

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10.1002/dvg.20349

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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.",

keywords = "Exencephaly, MMU4, Mib2, Neural tube closure, Ubiquitin ligase",

author = "Wu, {Jiang I.} and Rashmi Rajendra and Barsi, {Julius C.} and Larissa Durfee and Eva Benito and Guang Gao and Marram Kuruvilla and Radmila Hrdli{\v c}kov{\'a} and Liss, {Andrew S.} and Karen Artzt",

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T1 - Targeted disruption of Mib2 causes exencephaly with a variable penetrance

AU - Wu, Jiang I.

AU - Rajendra, Rashmi

AU - Barsi, Julius C.

AU - Durfee, Larissa

AU - Benito, Eva

AU - Gao, Guang

AU - Kuruvilla, Marram

AU - Hrdličková, Radmila

AU - Liss, Andrew S.

AU - Artzt, Karen

PY - 2007/11

Y1 - 2007/11

N2 - 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.

AB - 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.

KW - Exencephaly

KW - MMU4

KW - Mib2

KW - Neural tube closure

KW - Ubiquitin ligase

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ER -

Targeted disruption of Mib2 causes exencephaly with a variable penetrance

Abstract

Keywords

ASJC Scopus subject areas

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