Phenotypes Associated with This Genotype

Genotype
MGI:3690017

• Allelic Composition: Tg(Myh6-TNNI3*G203S)1Chs/0
• Genetic Background: Not Specified

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

cardiovascular system

abnormal myocardial fiber morphology ( J:114537 )

• exhibit myofiber disarray in hearts

cardiac hypertrophy ( J:114537 )

• markers of hypertrophy are elevated

heart left ventricle hypertrophy ( J:114537 )

cardiac interstitial fibrosis ( J:114537 )

abnormal impulse conducting system conduction ( J:114537 )

prolonged PR interval ( J:114537 )

• exhibit prolongation of the PR interval by 30 weeks of age, consistent with first-degree atrioventricular block

abnormal QRS complex ( J:114537 )

• exhibit decreased QRS and QRS-H

abnormal myocardial fiber physiology ( J:114537 )

• cardiomyocytes exhibit abnormal calcium cycling with a prolonged decay constant in calcium transients and a reduced decay constant in response to caffeine treatment, however show normal sarcoplasmic reticulum calcium release and storage

cardiomyopathy ( J:114537 )

• develop hallmarks of familial hypertrophic cardiomyopathy by 50 weeks of age

muscle

abnormal myocardial fiber morphology ( J:114537 )

• exhibit myofiber disarray in hearts

heart left ventricle hypertrophy ( J:114537 )

cardiomyopathy ( J:114537 )

• develop hallmarks of familial hypertrophic cardiomyopathy by 50 weeks of age

growth/size/body

cardiac hypertrophy ( J:114537 )

• markers of hypertrophy are elevated

heart left ventricle hypertrophy ( J:114537 )

cellular

cardiac interstitial fibrosis ( J:114537 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hypertrophic cardiomyopathy 7		DOID:0110313	OMIM:613690	J:114537