Mouse Genome Informatics
ht
    Myh6tm2Jse/Myh6+
involves: 129S1/Sv
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
cardiovascular system
• slight myocyte disarray is noticeable in tissue from apex of mutant hearts at 10-20 weeks of age
• 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 VRTF 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
• slight myocyte disarray is noticeable in tissue from apex of mutant hearts at 10-20 weeks of age

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

Mouse Models of Human Disease
OMIM IDRef(s)
Cardiomyopathy, Familial Hypertrophic, 14; CMH14 613251 J:95600