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Phenotypes Associated with This Genotype
Genotype
MGI:3664295
Allelic
Composition
Myh6tm2Jse/Myh6+
Genetic
Background
involves: 129S1/Sv
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Myh6tm2Jse mutation (0 available); any Myh6 mutation (42 available)
phenotype observed in females
phenotype observed in males
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 ID Ref(s)
Cardiomyopathy, Familial Hypertrophic, 14; CMH14 613251 J:95600


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
05/17/2016
MGI 6.03
The Jackson Laboratory