Phenotypes Associated with This Genotype

Genotype
MGI:5581492

• Allelic Composition: Myoz2^tm1Eno/Myoz2⁺; Tg(Myh6-MYOZ2*I246M)#Ajm/0
• Genetic Background: involves: 129/Sv * FVB/N

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

cardiovascular system

increased myocardial fiber size ( J:210073 )

• increase in cross-sectional area of cardiac myocytes

thick interventricular septum ( J:210073 )

cardiac hypertrophy ( J:210073 )

• ventricular/body weight ratio is increased, indicating cardiac hypertrophy

• molecular markers of cardiac hypertrophy (Myh7 and Nppb) are increased

heart left ventricle hypertrophy ( J:210073 )

• mice exhibit left ventricular hypertrophy as indicated by increased interventricular septal thickness and left ventricular mass

thick ventricular wall ( J:210073 )

• increase in posterior wall thickness

cardiac interstitial fibrosis ( J:210073 )

• 2-fold increase in interstitial fibrosis

• molecular markers of fibrosis (Co1a1 and Col3a1) are increased

abnormal cardiovascular system physiology ( J:210073 )

• left ventricular end diastolic diameter is moderately increased and mitral inflow is increased

• however left ventricular systolic function is normal

muscle

increased myocardial fiber size ( J:210073 )

• increase in cross-sectional area of cardiac myocytes

heart left ventricle hypertrophy ( J:210073 )

• mice exhibit left ventricular hypertrophy as indicated by increased interventricular septal thickness and left ventricular mass

abnormal Z line morphology ( J:210073 )

• various Z disk abnormalities, including poorly formed Z disks associated with myofibrillar disarray, and interrupted, discontinuous, bulging and slipped Z disks

growth/size/body

cardiac hypertrophy ( J:210073 )

• ventricular/body weight ratio is increased, indicating cardiac hypertrophy

• molecular markers of cardiac hypertrophy (Myh7 and Nppb) are increased

heart left ventricle hypertrophy ( J:210073 )

• mice exhibit left ventricular hypertrophy as indicated by increased interventricular septal thickness and left ventricular mass

cellular

cardiac interstitial fibrosis ( J:210073 )

• 2-fold increase in interstitial fibrosis

• molecular markers of fibrosis (Co1a1 and Col3a1) are increased

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hypertrophic cardiomyopathy 16		DOID:0110322	OMIM:613838	J:210073