Phenotypes Associated with This Genotype

Genotype
MGI:4936865

• Allelic Composition: Dmd^mdx/Y; Terc^tm1Rdp/Terc^tm1Rdp
• Genetic Background: involves: 129/Sv * C57BL/6J * C57BL/10ScSn * SJL

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

mortality/aging

premature death ( J:167294 )

♂ • second generation mice beginning at 48 weeks of age likely due to respiratory failure

muscle

abnormal skeletal muscle morphology ( J:167294 )

♂ • first and second generation mice exhibit a progressive reduction in revertant myofiber cluster size compared to in control mice

skeletal muscle necrosis ( J:167294 )

♂ • at 8 weeks in second generation mice

increased variability of skeletal muscle fiber size ( J:167294 )

♂ • at 8 weeks in second generation mice

centrally nucleated skeletal muscle fibers ( J:167294 )

♂ • in first and second generation mice

abnormal diaphragm morphology ( J:167294 )

♂ • diaphragms in first and second generation mice exhibit increased diameter compared with control mice

♂ • by 76 weeks, diaphragm muscle is atrophied unlike in control mice

decreased satellite cell number ( J:167294 )

♂ • in aged second generation mice

skeletal muscle degeneration ( J:167294 )

♂ • in second generation mice with age

skeletal muscle fibrosis ( J:167294 )

♂ • in second generation mice

calcified muscle ( J:167294 )

♂ • second generation mice exhibit calcium depositions in the muscles unlike control mice

dystrophic muscle ( J:167294 )

♂ • second generation mice exhibit progressive muscular dystrophy with age unlike control mice

♂ • however, dystrophic phenotypes are improved by transplantation with wild-type muscle stem cells

muscular atrophy ( J:167294 )

♂ • in first and second generation mice prior to and after damage

abnormal muscle physiology ( J:167294 )

♂ • at 8 weeks, second generation mice exhibit increased myofiber membrane permeability compared with control mice

♂ • second generation mice exhibit impaired muscle stem cell proliferation compared with control mice

♂ • muscle stem cells from second generation mice exhibit impaired proliferative potential in culture compared with control cells

♂ • muscle stem cells from second generation mice exhibit impaired engrafting after transplantation compared with control cells

myositis ( J:167294 )

♂ • at 8 weeks in second generation mice

abnormal muscle electrophysiology ( J:167294 )

♂ • at 8 weeks, first and second generation mice exhibit decreased muscle twitch force, tetanic force, and tetanic tension compared with control mice

muscle weakness ( J:167294 )

♂ • at 8 weeks, second generation mice spend less time running on a treadmill than control mice

♂ • at 8 weeks, second generation mice hold onto a grid for less time than control mice

homeostasis/metabolism

impaired exercise endurance ( J:167294 )

♂ • at 8 weeks, second generation mice spend less time running on a treadmill than control mice

increased circulating creatine kinase level ( J:167294 )

♂ • at 8 weeks in second generation mice, but declining after 60 weeks of age

cellular

decreased telomere length ( J:167294 )

♂ • myoblasts from first and second generation exhibit shortened telomeres compared with control cells

skeletal muscle necrosis ( J:167294 )

♂ • at 8 weeks in second generation mice

chromosomal instability ( J:167294 )

♂ • myoblasts from first and second generation exhibit fused chromosomes unlike control cells

skeleton

kyphosis ( J:167294 )

♂ • in aged second generation mice

respiratory system

respiratory failure ( J:167294 )

♂ • second generation mice beginning at 48 weeks of age likely due to respiratory failure

immune system

myositis ( J:167294 )

♂ • at 8 weeks in second generation mice

behavior/neurological

impaired exercise endurance ( J:167294 )

♂ • at 8 weeks, second generation mice spend less time running on a treadmill than control mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Duchenne muscular dystrophy		DOID:11723	OMIM:310200	J:167294