A mouse model for dominant collagen VI disorders Heterozygous Deletion of Col6a3 EXON 16

Te Cheng Pan, Rui Zhu Zhang, Machiko Arita, Sasha Bogdanovich, Sheila M. Adams, Sudheer Kumar Gara, Raimund Wagener, Tejvior S. Khurana, David E. Birk, Mon Li Chu*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

15 Scopus citations

Abstract

Background: Dominant collagen VI gene mutations cause the severe Ullrich congenital muscular dystrophy (UCMD) and mild Bethlem myopathy. Results: A mutant mouse mimicking the most common molecular defect in dominant UCMD patients was generated and characterized. Conclusion: The mutant mouse displays muscle and connective tissue abnormalities. Significance: The mutant mouse provides an animal model for dominant collagen VI disorders.

Original languageEnglish (US)
Pages (from-to)10293-10307
Number of pages15
JournalJournal of Biological Chemistry
Volume289
Issue number15
DOIs
StatePublished - Apr 11 2014

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Biology
  • Cell Biology

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