Phenotypes Associated with This Genotype

Genotype
MGI:6304488

• Allelic Composition: Tnnc1^tm1.1Jrpi/Tnnc1⁺
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6

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

cardiovascular system

abnormal myocardial fiber morphology ( J:274007 )

• myofibrillar disarray

papillary muscle hypertrophy ( J:274007 )

heart right ventricle hypertrophy ( J:274007 )

• right ventricular wall and apical hypertrophy

increased heart atrium size ( J:274007 )

decreased heart weight ( J:274007 )

• heart weight to body weight ratio is reduced in 12-13 month old mice

thick ventricular wall ( J:274007 )

• relative wall thickness is increased as early as 3 months of age

cardiac interstitial fibrosis ( J:274007 )

increased cardiac stroke volume ( J:274007 )

• higher stroke volume when normalized to heart weight, indicating augmented systolic function

abnormal heart echocardiography feature ( J:274007 )

• left ventricular dimensions are reduced at 14 months of age

abnormal heart left ventricle pressure ( J:274007 )

• higher maximal left ventricular pressure values

abnormal myocardial fiber physiology ( J:274007 )

• cardiomyocytes exhibit reduced diastolic sarcomeric length, increased shortening, and prolonged calcium and contractile transients

cardiomyopathy ( J:274007 )

muscle

abnormal myocardial fiber morphology ( J:274007 )

• myofibrillar disarray

papillary muscle hypertrophy ( J:274007 )

heart right ventricle hypertrophy ( J:274007 )

• right ventricular wall and apical hypertrophy

cardiomyopathy ( J:274007 )

growth/size/body

heart right ventricle hypertrophy ( J:274007 )

• right ventricular wall and apical hypertrophy

cellular

cardiac interstitial fibrosis ( J:274007 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hypertrophic cardiomyopathy 13		DOID:0110319	OMIM:613243	J:274007