Phenotypes Associated with This Genotype

Genotype
MGI:3618527

• Allelic Composition: Sgcd^tm1Mcn/Sgcd^tm1Mcn
• Genetic Background: involves: 129S1/Sv * 129T2/SvEmsJ * 129X1/SvJ

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

mortality/aging

premature death ( J:76730 )

• beginning at 8 weeks of age, begin to die suddenly

• premature mortality is also noted at 12, 16, and 28 weeks of age, with a 50% survival rate at 28 weeks of age

muscle

dystrophic muscle ( J:76730 )

• all skeletal muscles show dystrophic changes

• regional degeneration and regeneration of muscle fibers is common and accompanied by an inflammatory infiltrate

muscle degeneration ( J:76730 )

• skeletal and cardiac muscle degeneration

abnormal muscle physiology ( J:76730 )

• muscles exhibit pronounced Evans blue dye uptake, indicating alterations in membrane permeability of muscles

cardiomyopathy ( J:76730 )

• beginning at 12 weeks of age, observe signs of cardiac muscle degeneration as indicated by areas of cell death and inflammatory infiltrate

abnormal muscle contractility ( J:76730 )

• show a 42% drop in force generation over a five eccentric contraction protocol, however twich and tetanic force generation is normal

cardiovascular system

perivascular fibrosis ( J:76730 )

• frequent occurrence of perivascular fibrosis

cardiomyopathy ( J:76730 )

• beginning at 12 weeks of age, observe signs of cardiac muscle degeneration as indicated by areas of cell death and inflammatory infiltrate

homeostasis/metabolism

increased circulating creatine kinase level ( J:76730 )

• elevation in serum creatine kinase levels

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal recessive limb-girdle muscular dystrophy type 2F		DOID:0110280	OMIM:601287	J:76730
dilated cardiomyopathy 1L		DOID:0110436	OMIM:606685	J:76730