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Phenotypes Associated with This Genotype
Genotype
MGI:5909304
Allelic
Composition
Tg(Myh6-Tnni3*R193H)42Xhu/0
Genetic
Background
involves: C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
No mouse lines available in IMSR.
See publication links below for author information.
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• dilation of both atria
• however, no significant hypertrophy or ventricular dilation is seen in hearts at 8 weeks of age, and heart rate and left ventricle wall thickness are normal
• ejection fraction is decreased at 11 months but not at 6-8 weeks of age
• hearts show impaired diastolic dysfunction, with an increase in end diastolic dimension and end systolic dimension in both left and right atria and decreased left ventricle end diastolic dimension by 20%, indicating impaired heart relaxation at 6-8 weeks of age
• average ejection fraction is 35.4% in 11 month old mutants compared to 58.2% in wild-type mice, indicating restrictive cardiomyopathy

muscle
• ejection fraction is decreased at 11 months but not at 6-8 weeks of age
• hearts show impaired diastolic dysfunction, with an increase in end diastolic dimension and end systolic dimension in both left and right atria and decreased left ventricle end diastolic dimension by 20%, indicating impaired heart relaxation at 6-8 weeks of age
• average ejection fraction is 35.4% in 11 month old mutants compared to 58.2% in wild-type mice, indicating restrictive cardiomyopathy

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
restrictive cardiomyopathy DOID:397 OMIM:PS115210
J:119991


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
11/05/2019
MGI 6.14
The Jackson Laboratory