Phenotypes associated with this allele

• Allele Symbol: Myh6^tm1Ces
• Allele Name: targeted mutation 1, Christine E Seidman
• Allele ID: MGI:3690299
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Myh6^tm1Ces/Myh6^tm1Ces	involves: 129S/SvEv * 129X1/SvJ	MGI:3691280
ht2	Myh6^tm1Ces/Myh6^+	involves: 129S/SvEv * 129X1/SvJ	MGI:3691279

Genotype
MGI:3691280

hm1

• Allelic Composition: Myh6^tm1Ces/Myh6^tm1Ces
• 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 )

dilated cardiomyopathy ( J:114549 )

• progress rapidly to dilated cardiomyopathy, however do not exhibit myofibrillar disarray or fibrosis

decreased cardiac muscle contractility ( J:114549 )

• develop contractile dysfunction and reduced fractional shortening at around 12 weeks of age

muscle

dilated cardiomyopathy ( J:114549 )

• progress rapidly to dilated cardiomyopathy, however do not exhibit myofibrillar disarray or fibrosis

decreased cardiac muscle contractility ( J:114549 )

• develop contractile dysfunction and reduced fractional shortening at around 12 weeks of age

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

Genotype
MGI:3691279

ht2

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

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