[PDF][PDF] Identification of a novel mutant transcript of laminin ct2 chain gene responsible for muscular dystrophy and dysmyelination in dy 21 mice
Y Sunada, SM Bernier, A Utani, Y Yamada… - Hum. Molec …, 1995 - physiology.uiowa.edu
Murine dystrophia muscularis-2J (dy2-1) is an autosomal recessive disorder characterized
by muscular dystrophy and dysmyelination of peripheral nerve. Biochemical characterization
of dy20 mice revealed the expression of a mutant laminin cc2 chain with a smaller molecular
weight in the basal lamina of striated muscle and peripheral nerve. DNA sequencing of the
oc2 chain cDNA amplified by RT-PCR from dy™ mice identified a novel and predominant
transcript with a 171 base in-frame deletion. We also confirmed an underlying splice donor …
by muscular dystrophy and dysmyelination of peripheral nerve. Biochemical characterization
of dy20 mice revealed the expression of a mutant laminin cc2 chain with a smaller molecular
weight in the basal lamina of striated muscle and peripheral nerve. DNA sequencing of the
oc2 chain cDNA amplified by RT-PCR from dy™ mice identified a novel and predominant
transcript with a 171 base in-frame deletion. We also confirmed an underlying splice donor …