Phenotypes Associated with This Genotype

Genotype
MGI:3691279

• Allelic Composition: Myh6^tm1Ces/Myh6⁺
• Genetic Background: involves: 129S/SvEv * 129X1/SvJ

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

cardiovascular system

dilated heart left ventricle ( J:114549 )

• show a gradual increase in left ventricle chamber size in some mutants by 12 weeks of age and in all mutants by 50 weeks of age

dilated cardiomyopathy ( J:114549 )

• exhibit a gradual development of dilated cardiomyopathy that is more pronounced than in Myh6^tm2Ces heterozygotes

decreased cardiac muscle contractility ( J:114549 )

• isolated cardiac myocytes from 8-week old mutants have impaired contractile function, as indicated by reduced extent and rate of shortening and slower rate of relaxation, however to a lesser extent than in homozygotes

abnormal cardiac muscle relaxation ( J:114549 )

• isolated cardiac myocytes from 8-week old mutants show a slower rate of relaxation than wild-type

muscle

dilated cardiomyopathy ( J:114549 )

• exhibit a gradual development of dilated cardiomyopathy that is more pronounced than in Myh6^tm2Ces heterozygotes

decreased cardiac muscle contractility ( J:114549 )

• isolated cardiac myocytes from 8-week old mutants have impaired contractile function, as indicated by reduced extent and rate of shortening and slower rate of relaxation, however to a lesser extent than in homozygotes

abnormal cardiac muscle relaxation ( J:114549 )

• isolated cardiac myocytes from 8-week old mutants show a slower rate of relaxation than wild-type

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
dilated cardiomyopathy		DOID:12930	OMIM:PS115200	J:114549