Phenotypes Associated with This Genotype

Genotype
MGI:5909329

• Allelic Composition: Tg(Myh6-Tnni3*R146G)133Rbns/0
• Genetic Background: Not Specified

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

mortality/aging

postnatal lethality, complete penetrance ( J:243628 )

• mice die between 13 and 17 days after birth

cardiovascular system

abnormal heart morphology ( J:243628 )

• abnormal hearts

abnormal myocardial fiber morphology ( J:243628 )

• cardiomyocytes show short sarcomeres with wide Z bands and no visible I bands, swollen and disorganized sarcoplasmic reticulum, and abnormal mitochondrial ultrastructure and distribution

abnormal myocardial fiber mitochondrial morphology ( J:243628 )

• mitochondrial ultrastructure and distribution are abnormal in cardiomyocytes

cardiac hypertrophy ( J:243628 )

• molecular markers of cardiac hypertrophy are activated, however no overt hypertrophy is seen

abnormal heart ventricle morphology ( J:243628 )

• ventricles exhibit cardiomyocyte disarray, interstitial and perivascular fibrosis, and nuclear degeneration by 10 days after birth but not at E18

• however, no increase in the ventricle or body weight is seen at 10-11 days of age

cardiac interstitial fibrosis ( J:243628 )

• ventricles exhibit interstitial and perivascular fibrosis

abnormal myocardial fiber physiology ( J:243628 )

• skinned papillary muscle from 10 day old mice show increased calcium sensitivity and depressed maximum tension

• however, no differences are seen in unloaded shortening velocity, maximum shortening velocity, or maximum relative power

cellular

abnormal myocardial fiber mitochondrial morphology ( J:243628 )

• mitochondrial ultrastructure and distribution are abnormal in cardiomyocytes

cardiac interstitial fibrosis ( J:243628 )

• ventricles exhibit interstitial and perivascular fibrosis

muscle

abnormal myocardial fiber morphology ( J:243628 )

• cardiomyocytes show short sarcomeres with wide Z bands and no visible I bands, swollen and disorganized sarcoplasmic reticulum, and abnormal mitochondrial ultrastructure and distribution

abnormal myocardial fiber mitochondrial morphology ( J:243628 )

• mitochondrial ultrastructure and distribution are abnormal in cardiomyocytes

abnormal sarcomere morphology ( J:243628 )

• cardiomyocytes from 9 day old mice exhibit abnormally short sarcomeres with wide Z bands and no visible I bands

• sarcomeric organization is disturbed in many areas

abnormal I band morphology ( J:243628 )

• cardiomyocytes from 9 day old mice lack visible I bands

abnormal Z line morphology ( J:243628 )

• cardiomyocytes from 9 day old mice exhibit wide Z bands

abnormal sarcoplasmic reticulum morphology ( J:243628 )

• the sarcoplasmic reticulum is swollen and disorganized, with disruption of the normal spatial relationship between the sarcomeres and sarcoplasmic reticulum

growth/size/body

cardiac hypertrophy ( J:243628 )

• molecular markers of cardiac hypertrophy are activated, however no overt hypertrophy is seen

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hypertrophic cardiomyopathy 7		DOID:0110313	OMIM:613690	J:243628