Phenotypes Associated with This Genotype

Genotype
MGI:5485272

• Allelic Composition: Tg(Myh6-tTA)6Smbf/0; Tg(tetO-Spp1)5Gad/0
• Genetic Background: involves: C57BL/6 * CBA

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

mortality/aging

premature death ( J:194810 )

• mutants show a large increase in mortality occurring between the 8th and 15th week after birth, with a half-life of 12 weeks

cardiovascular system

abnormal heart morphology ( J:194810 )

• cellular organization in hearts is altered after 11 weeks of age, with evidence of myocyte loss and interstitial cell infiltratio

• the number of apoptotic cells in the hear is increased at 11 weeks of age

dilated heart left ventricle ( J:194810 )

• at 11 weeks of age, but not 6 weeks, heart left ventricle is severely dilated

dilated cardiomyopathy ( J:194810 )

• at 11 weeks of age, the left ventricle free wall is thinner during systole than in controls, suggesting the development of a hypokinetic dilated cardiomyopathy

decreased cardiac muscle contractility ( J:194810 )

• mutants exhibit systolic dysfunction at 11 weeks of age, indicated by reduced left ventricle fractional shortening

abnormal impulse conducting system conduction ( J:194810 )

• ECG intervals during the last ECG recording before death show differences in PQ, QRS, QT, and QTc but not of RR

• mice that survive exhibit ECG parameters with normal values, with a moderate prolongation of PQ and QRS intervals

atrioventricular block ( J:194810 )

• mice that die during the 15th week, show complete atrioventricular block, with dissociation between the sinus and idioventricular escape rhythms

prolonged PQ interval ( J:194810 )

• at 11 weeks of age

prolonged QRS complex duration ( J:194810 )

• at 11 weeks of age, mutants show a moderately prolonged QRS interval

abnormal T wave ( J:194810 )

• at 11 weeks of age, ECGs show an abnormal repolarization with disappearance of the early positive phase of the T wave commonly seen in controls

• at 11 weeks of age, the T-wave duration is prolonged

• however, the QT interval is not prolonged

heart inflammation ( J:194810 )

• hearts are infiltrated by a large number of interstitial cells; about 50% of infiltrating cells express panleukocyte CD45 marker

myocarditis ( J:194810 )

immune system

heart inflammation ( J:194810 )

• hearts are infiltrated by a large number of interstitial cells; about 50% of infiltrating cells express panleukocyte CD45 marker

myocarditis ( J:194810 )

muscle

dilated cardiomyopathy ( J:194810 )

• at 11 weeks of age, the left ventricle free wall is thinner during systole than in controls, suggesting the development of a hypokinetic dilated cardiomyopathy

decreased cardiac muscle contractility ( J:194810 )

• mutants exhibit systolic dysfunction at 11 weeks of age, indicated by reduced left ventricle fractional shortening

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
dilated cardiomyopathy		DOID:12930	OMIM:PS115200	J:194810