Human tibial muscular dystrophy (TMD) and Limb-girdle muscular dystrophy type 2J

B6C3Fe a/a-Ttnmdm/J

Stock Number 001512

Mice homozygous for the muscular dystrophy with myositis (mdm) spontaneous mutation can be used as models of human tibial muscular dystrophy (TMD) and limb-girdle muscular dystrophy type 2J. Homozygotes can be recognized at 12 days by an unusual stiff and humpbacked posture. They become very stiff, immobile, and most die before they are two months old. Histological sections show severe muscular degeneration with acute chronic myositis.

Reference

Garvey SM, Rajan C, Lerner AP, Frankel WN, Cox GA. 2002. The Muscular Dystrophy with Myositis (mdm) Mouse Mutation Disrupts a Skeletal Muscle-Specific Domain of Titin. Genomics 79:146-9.