Phenotypes Associated with This Genotype

Genotype
MGI:3838173

• Allelic Composition: Tg(Myh6-MYL2*D166V)1Dsc/0
• Genetic Background: involves: C57BL/6 * SJL

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

cardiovascular system

cardiovascular system phenotype ( J:146091 )

N • unlike human patients with familial hypertrophic cardiomyopathy, mice fail to exhibit cardiac hypertrophy

cardiac fibrosis ( J:146091 )

• at 17 months of age

abnormal myocardial fiber physiology ( J:146091 )

• skinned muscle fibers exhibit increased delta pCa50 values of ATPase and force-pCa relationship compared to in wild-type fibers

• maximal ATPase in skinned muscle fibers is reduced 22% compared to in wild-type cells

• maximal force in skinned muscle fibers is reduced 32% compared to in wild-type cells

• papillary muscle fibers exhibit slower myosin cross-bridge dissociation and normalized force compared to wild-type mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hypertrophic cardiomyopathy 10		DOID:0110316	OMIM:608758	J:146091