A genetic model for muscle-eye-brain disease in mice lacking protein O-mannose 1,2-N-acetylglucosaminyltransferase (POMGnT1)

Jianmin Liu, Sherry L. Ball, Yuan Yang, Pinchao Mei, Lei Zhang, Haining Shi, Henry J. Kaminski, Vance P. Lemmon, Huaiyu Hu

Research output: Contribution to journalArticle

97 Scopus citations

Abstract

Protein O-mannose β1,2-N-acetyglucosaminyltransferase 1 (POMGnT1) is an enzyme involved in the synthesis of O-mannosyl glycans. Mutations of POMGnT1 in humans result in the muscle-eye-brain (MEB) disease. In this study, we have characterized a null mutation generated by gene trapping with a retroviral vector inserted into the second exon of the mouse POMGnT1 locus. Expression of POMGnT1 mRNA was abolished in mutant mice. Glycosylation of α-dystroglycan was also reduced. POMGnT1 mutant mice were viable with multiple developmental defects in muscle, eye, and brain, similar to the phenotypes observed in human MEB disease. The present study provides the first genetic animal model to further dissect the roles of POMGnT1 in MEB disease.

Original languageEnglish (US)
Pages (from-to)228-240
Number of pages13
JournalMechanisms of Development
Volume123
Issue number3
DOIs
StatePublished - Mar 2006

Keywords

  • α-dystroglycan
  • Electroretinogram
  • Mouse model
  • Muscle-eye-brain disease
  • Neuronal migration
  • OmniBank
  • POMGnT1

ASJC Scopus subject areas

  • Developmental Biology
  • Developmental Neuroscience

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