Ontology highlight
ABSTRACT:
SUBMITTER: Pan TC
PROVIDER: S-EPMC4036154 | biostudies-literature | 2014 Apr
REPOSITORIES: biostudies-literature
Pan Te-Cheng TC Zhang Rui-Zhu RZ Arita Machiko M Bogdanovich Sasha S Adams Sheila M SM Gara Sudheer Kumar SK Wagener Raimund R Khurana Tejvior S TS Birk David E DE Chu Mon-Li ML
The Journal of biological chemistry 20140222 15
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 resulting heterozygous mouse, Col6a3(+/d16), produced comparable amounts of normal Co ...[more]