Phenotypes Associated with This Genotype

Genotype
MGI:6394025

• Allelic Composition: Dmd^em#Tve/Y
• Genetic Background: involves: C57BL/6 * CBA

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

growth/size/body

slow postnatal weight gain ( J:275476 )

♂ • mice show less weight gain in the first 12 weeks but then reach the same average mass level as controls before surpassing them in weight

increased body weight ( J:275476 )

♂ • while initial weight gain is lower in the first 12 weeks of life, mice eventually surpass controls in weight

muscle

skeletal muscle fiber necrosis ( J:275476 )

♂ • myofiber necrosis

abnormal sarcolemma morphology ( J:275476 )

♂ • reduction in levels of alpha- and beta-sarcoglycans and lower levels of syntrophin are seen in the sarcolemma of tibialis anterior muscle

decreased skeletal muscle fiber diameter ( J:275476 )

♂ • tibialis anterior muscle median muscle fiber cross-sectional area and median minimal Feret diameter are smalle

centrally nucleated skeletal muscle fibers ( J:275476 )

♂ • number of centronucleated fibers in skeletal muscles is 2-fold higher than in diaphragms

♂ • 86% of myofibers show central nucleation compared to 4% in controls

skeletal muscle fiber degeneration ( J:275476 )

♂ • 12-week-old mice show myofiber damage and many fibers with centrally located nuclei, indicating degeneration and subsequent regeneration

♂ • presence of infiltrating inflammatory cells and fibrotic scars replacing damaged myofibers

skeletal muscle fibrosis ( J:275476 )

♂ • presence of infiltrating inflammatory cells and fibrotic scars replacing damaged myofibers

dystrophic muscle ( J:275476 )

♂ • skeletal muscles and the diaphragm show more prominent dystrophic phenotype than the heart

muscle weakness ( J:275476 )

♂ • mice show a gradual age-dependent decrease in muscle strength in the wire hanging test showing decreased max hanging time, decreased specific force, increased force deficit and increased muscle recovery rate with age

homeostasis/metabolism

increased circulating creatine kinase level ( J:275476 )

♂ • serum creatine kinase content is about 10 times higher than in wild-type mice

cellular

skeletal muscle fiber necrosis ( J:275476 )

♂ • myofiber necrosis

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Duchenne muscular dystrophy		DOID:11723	OMIM:310200	J:275476