Phenotypes associated with this allele

• Allele Symbol: Myh6^tm2Ces
• Allele Name: targeted mutation 2, Christine E Seidman
• Allele ID: MGI:3690300
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Myh6^tm2Ces/Myh6^tm2Ces	involves: 129S/SvEv * 129X1/SvJ	MGI:3691281
ht2	Myh6^tm2Ces/Myh6^+	involves: 129S/SvEv * 129X1/SvJ	MGI:3691282

Genotype
MGI:3691281

hm1

• Allelic Composition: Myh6^tm2Ces/Myh6^tm2Ces
• 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 1EE		DOID:0110453	OMIM:613252	J:114549

Genotype
MGI:3691282

ht2

• Allelic Composition: Myh6^tm2Ces/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 less pronounced than in Myh6^tm1Ces 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, however to a lesser extent that in homozygotes

muscle

dilated cardiomyopathy ( J:114549 )

• exhibit a gradual development of dilated cardiomyopathy that is less pronounced than in Myh6^tm1Ces 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, however to a lesser extent that in homozygotes

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
dilated cardiomyopathy 1EE		DOID:0110453	OMIM:613252	J:114549