Phenotypes Associated with This Genotype

Genotype
MGI:3789123

• Allelic Composition: Dmd^mdx/Y
• Genetic Background: C57BL/10ScSn-Dmd^mdx/J

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

behavior/neurological

abnormal motor capabilities/coordination/movement ( J:7361 )

♂

tremors ( J:7361 )

♂ • muscular tremors noticeable by 12 months of age

impaired coordination ( J:7361 )

♂ • mild incoordination noticeable by 12 months of age

immune system

increased interferon-gamma secretion ( J:150572 )

♂ • in splenocytes at 2 weeks of age

increased interleukin-12 secretion ( J:150572 )

♂ • in splenocytes at 2 weeks of age

increased interleukin-2 secretion ( J:150572 )

♂ • in splenocytes at 2 weeks and 2 years of age

increased interleukin-4 secretion ( J:150572 )

♂ • in splenocytes at 2 weeks, 4 weeks, and 2 years of age

increased interleukin-6 secretion ( J:150572 )

♂ • in splenocytes at 2 weeks of age

increased tumor necrosis factor secretion ( J:150572 )

♂ • in splenocytes at 2 weeks of age

homeostasis/metabolism

increased circulating creatine kinase level ( J:7361 )

♂ • exhibit elevated blood levels of creatine kinase

abnormal circulating pyruvate kinase level ( J:7361 )

♂ • exhibit elevated blood levels of pyruvate kinase

muscle

abnormal muscle morphology ( J:7361 )

♂

dilated sarcoplasmic reticulum ( J:7361 )

♂

abnormal skeletal muscle fiber morphology ( J:7361 )

♂ • development of electron-dense bodies in the mitochondria resulting in swelling and degenerating mitochondria, and disruption of the plasmalemma basal lamina

♂ • the normal myofibrillar architecture of bands and lines disappears and myofilaments disintegrate and become misaligned

increased variability of skeletal muscle fiber size ( J:7361 )

♂ • variable muscle fiber size; progressive starting at 3 weeks of age

skeletal muscle fibrosis ( J:7361 )

♂ • exhibit mild muscle fibrosis, however there is no replacement of lost muscle by fat cells

skeletal muscle necrosis ( J:7361 )

♂ • progressive starting at 9 weeks of age

dystrophic muscle ( J:7361 )

♂

muscle degeneration ( J:7361 )

♂ • progressive starting at 3 weeks of age

muscular atrophy ( J:7361 )

♂ • progressive starting at 3 weeks of age

abnormal muscle physiology ( J:3666 )

♂ • increased intracellular sodium concentration in muscle; increased severity with age

myopathy ( J:7361 )

♂ • progressive degenerative myopathy; increased severity with age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Duchenne muscular dystrophy		DOID:11723	OMIM:310200	J:7361