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Phenotypes Associated with This Genotype
Genotype
MGI:8210457
Allelic
Composition
Myh6em1(MYH7*R403Q)Eno/Myh6+
Genetic
Background
involves: C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Myh6em1(MYH7*R403Q)Eno mutation (0 available); any Myh6 mutation (205 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
muscle
• develops by 9 months of age
• mice develop cardiomyopathy with substantial ventricular hypertrophy, myocyte disarray, and fibrosis at 9 months of age
• mice fed a diet containing 0.1% cyclosporine A which accelerates hypertrophic cardiomyopathy exhibit increased features of hypertrophic cardiomyopathy compared to wild-type controls, with increased left ventricular anterior wall thickness at diastole and increased left ventricular posterior wall thickness at diastole, decreased left ventricular internal diameter at diastole and systole, with increased ejection fraction and fractional shortening, increased cardiac wall thickness and decreased ventricular cross-sectional area
• intrathoracic delivery of adenine base editing (ABE) components to correct the missense human variant (AAV9 ABE) in cyclosporine A-fed mice results in reduced features of hypertrophic cardiomyopathy with similar echocardiography results as in wild-type controls

cardiovascular system
• develops by 9 months of age
• mice fed a diet containing 0.1% cyclosporine A exhibit 1.3-fold larger hearts by heart weight
• AAV9 ABE-treated mice show no differences in heart size and weight
• ventricular hypertrophy is seen by 9 months of age
• develops by 9 months of age
• mice fed a diet containing 0.1% cyclosporine A have a 3-fold increase in collagen area compared to wild-type controls indicating increased fibrosis
• AAV9 ABE-treated mice show no difference in collagen area/fibrosis
• mice develop cardiomyopathy with substantial ventricular hypertrophy, myocyte disarray, and fibrosis at 9 months of age
• mice fed a diet containing 0.1% cyclosporine A which accelerates hypertrophic cardiomyopathy exhibit increased features of hypertrophic cardiomyopathy compared to wild-type controls, with increased left ventricular anterior wall thickness at diastole and increased left ventricular posterior wall thickness at diastole, decreased left ventricular internal diameter at diastole and systole, with increased ejection fraction and fractional shortening, increased cardiac wall thickness and decreased ventricular cross-sectional area
• intrathoracic delivery of adenine base editing (ABE) components to correct the missense human variant (AAV9 ABE) in cyclosporine A-fed mice results in reduced features of hypertrophic cardiomyopathy with similar echocardiography results as in wild-type controls

growth/size/body
• mice fed a diet containing 0.1% cyclosporine A exhibit 1.3-fold larger hearts by heart weight
• AAV9 ABE-treated mice show no differences in heart size and weight
• ventricular hypertrophy is seen by 9 months of age

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
hypertrophic cardiomyopathy 1 DOID:0110307 OMIM:192600
J:362301


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
03/18/2025
MGI 6.24
The Jackson Laboratory