[HTML][HTML] A mouse model for dominant collagen VI disorders: heterozygous deletion of Col6a3 Exon 16
TC Pan, RZ Zhang, M Arita, S Bogdanovich… - Journal of Biological …, 2014 - ASBMB
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 …
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 …