Journal
NEUROMUSCULAR DISORDERS
Volume 13, Issue 3, Pages 216-222Publisher
PERGAMON-ELSEVIER SCIENCE LTD
DOI: 10.1016/S0960-8966(02)00278-X
Keywords
muscular dystrophy; animal model; skeletal muscle; laminin alpha 2 chain; long terminal repeat; retrotransposon
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We identified a novel spontaneous mouse model of human congenital muscular dystrophy with laminin alpha2 chain deficiency, named dy(Pas)/dy(Pas). Homozygous animals rapidly developed a progressive muscular dystrophy leading to premature death. Immunohistological and biochemical analyses demonstrated the absence of laminin alpha2 chain expression in skeletal muscle. Analysis of the laminin alpha2 chain cDNA showed the insertion of the long terminal repeat of an intracisternal A-particle gene. In addition, a 6.1 kb insertion composed of retrotransposon elements was identified in the Lama2 sequence. The dy(Pas)/dy(Pas) mouse is thus the first spontaneous mutant with a complete laminin alpha2 chain deficiency in which the mutation has been identified. (C) 2002 Elsevier Science B.V. All rights reserved.
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