Phenotypes Associated with This Genotype

Genotype
MGI:5315430

• Allelic Composition: Tg(Myh6-MYL2*A13T)L1Dsc/0
• Genetic Background: involves: C57BL/6 * SJL

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

cardiovascular system

abnormal interventricular septum morphology ( J:181028 )

• enlarged interventricular septa

cardiac hypertrophy ( J:181028 )

• mutants exhibit a decrease in the number of nuclei/mm² in hearts, indicating hypertrophy leading to an increase in the size of myocytes

cardiac fibrosis ( J:181028 )

• mutants exhibit fibrotic lesions in left ventricular walls

abnormal myocardial fiber physiology ( J:181028 )

• increase in isometric force production and a 25% decrease in Vmax of the acto-myosin ATPase, however no change in the force-pCa relationship

• 1.4-fold increase in maximal contractile force

cardiomyopathy ( J:181028 )

muscle

cardiomyopathy ( J:181028 )

growth/size/body

cardiac hypertrophy ( J:181028 )

• mutants exhibit a decrease in the number of nuclei/mm² in hearts, indicating hypertrophy leading to an increase in the size of myocytes

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hypertrophic cardiomyopathy 10		DOID:0110316	OMIM:608758	J:181028