Analysis Tools|
Allele Symbol Allele Name Allele ID |
Myh6em1(MYH7*R403Q)Eno endonuclease-mediated mutation 1, Eric N Olson MGI:8210452 |
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| Summary |
2 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice die within the first week of life
• intrathoracic delivery of adenine base editing (ABE) components to correct the missense human variant (AAV9 ABE) in P0 pups increases survival to 9 days at a low-dose ABE and 15 days at a high-dose ABE
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• develops by 9 months of age
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• 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
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• develops by 9 months of age
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• 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
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• ventricular hypertrophy is seen by 9 months of age
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• 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
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• 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
|
|
• 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
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• ventricular hypertrophy is seen by 9 months of age
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| hypertrophic cardiomyopathy 1 | DOID:0110307 |
OMIM:192600 |
J:362301 | |
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 03/25/2025 MGI 6.24 |
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