Phenotypes Associated with This Genotype

Genotype
MGI:3664295

• Allelic Composition: Myh6^tm2Jse/Myh6⁺
• Genetic Background: involves: 129S1/Sv

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

cardiovascular system

myocardial fiber disarray ( J:95600 )

• slight myocyte disarray is noticeable in tissue from apex of mutant hearts at 10-20 weeks of age

cardiac fibrosis ( J:95600 )

abnormal myocardial fiber physiology ( J:95600 )

• mutants show marked differences in cross-bridge kinetics of isolated myosin and skinned strips of myocardium

• maximal velocity (V) of regulated thin filament (RTF) in an in vitro motility assay is not changed compared to wild-type

• myosin concentration at half-maximal V_RTF is not different from wild-type

• characteristic frequency for oscillatory work production in skinned strips is 18% higher in mutants vs wild-type

• calcium sensitivity for isometric tension in skinned strips (pCa₅₀=5.82) is significantly enhanced compared to wild-type (pCa₅₀=5.58)

muscle

myocardial fiber disarray ( J:95600 )

• slight myocyte disarray is noticeable in tissue from apex of mutant hearts at 10-20 weeks of age

homeostasis/metabolism

abnormal enzyme/coenzyme activity ( J:95600 )

• there is a 45% decrease in V_max of actin-activated ATP hydrolysis in isolated myosin from mutant hearts at 10-20 weeks of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hypertrophic cardiomyopathy 14		DOID:0110320	OMIM:613251	J:95600