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Article

A mouse model for dominant collagen VI disorders: heterozygous deletion of Col6a3 Exon 16.

The Journal of biological chemistry - 11 Apr 2014

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

Abstract excerpt

Dominant and recessive mutations in collagen VI genes, COL6A1, COL6A2, and COL6A3, cause a continuous spectrum of disorders characterized by muscle weakness and connective tissue abnormalities ranging from the severe Ullrich congenital muscular dystrophy to the mild Bethlem myopathy. Herein, we report the development of a mouse model for dominant collagen VI disorders by deleting exon 16 in the Col6a3 gene. The...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 24563484
DOI: 10.1074/jbc.M114.549311
PMCID: PMC4036154

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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