Phenotypes Associated with This Genotype

Genotype
MGI:5909304

• Allelic Composition: Tg(Myh6-Tnni3*R193H)42Xhu/0
• Genetic Background: involves: C57BL/6

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

cardiovascular system

dilated heart atrium ( J:119991 )

• 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

decreased cardiac muscle contractility ( J:119991 )

• ejection fraction is decreased at 11 months but not at 6-8 weeks of age

decreased cardiac muscle relaxation ( J:119991 )

• 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

cardiomyopathy ( J:119991 )

• average ejection fraction is 35.4% in 11 month old mutants compared to 58.2% in wild-type mice, indicating restrictive cardiomyopathy

muscle

decreased cardiac muscle contractility ( J:119991 )

• ejection fraction is decreased at 11 months but not at 6-8 weeks of age

decreased cardiac muscle relaxation ( J:119991 )

• 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

cardiomyopathy ( J:119991 )

• 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:115210 OMIM:PS115210	J:119991