Phenotypes Associated with This Genotype

Genotype
MGI:3784305

• Allelic Composition: Dmd^mdx/?; Myod1^tm1Jae/Myod1^tm1Jae
• Genetic Background: involves: 129S4/SvJae * C57BL/10ScSn

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

Dmd^mdx/? Myod1^tm1Jae/Myod1^tm1Jae mice develop cardiomyopathy

mortality/aging

premature death ( J:52248 )

• premature death around 12 months of age

cardiovascular system

increased myocardial fiber size ( J:52248 )

• ventricles contain regions in which individual cardiac myocytes are enlarged; these hypertrophic myocytes are more common in the left ventricle than the right ventricle

• cardiac myocyte hypertrophy precedes necrosis

myocardium necrosis ( J:52248 )

• fibrotic areas are composed of necrotic myocytes

increased heart weight ( J:52248 )

abnormal heart ventricle morphology ( J:52248 )

• hearts show an increase in ventricular diameter without a change in the thickness of the ventricular wall

cardiac fibrosis ( J:52248 )

• more than 50% of mutants show evidence of fibrosis at 10 months of age, while more than 80% display extensive fibrosis by 12 months of age

• fibrosis is seen in the left ventricle and only rarely in the right ventricle and are confined primarily to the epicardial region of the left ventricle

cardiac interstitial fibrosis ( J:52248 )

• fibrotic areas are composed of necrotic myocytes associated with interstitial fibrosis

dilated cardiomyopathy ( J:52248 )

• progressive development of dilated cardiomyopathy that is evident by 5 months of age

muscle

increased myocardial fiber size ( J:52248 )

• ventricles contain regions in which individual cardiac myocytes are enlarged; these hypertrophic myocytes are more common in the left ventricle than the right ventricle

• cardiac myocyte hypertrophy precedes necrosis

myocardium necrosis ( J:52248 )

• fibrotic areas are composed of necrotic myocytes

dilated cardiomyopathy ( J:52248 )

• progressive development of dilated cardiomyopathy that is evident by 5 months of age

growth/size/body

increased heart weight ( J:52248 )

cellular

cardiac interstitial fibrosis ( J:52248 )

• fibrotic areas are composed of necrotic myocytes associated with interstitial fibrosis

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Duchenne muscular dystrophy		DOID:11723	OMIM:310200	J:52248