Phenotypes Associated with This Genotype

Genotype
MGI:5909332

• Allelic Composition: Tg(Myh6-Tnni3*R146G)121Rbns/0
• Genetic Background: Not Specified

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

cardiovascular system

abnormal myocardial fiber morphology ( J:243628 )

♀ • some cardiomyocytes from parous females show features of hypoxia as evidenced by swollen mitochondria and large gaps between the sarcoplasmic reticulum, mitochondria, and sarcomeres

cardiac hypertrophy ( J:243628 )

♀ • 13 month postpartum females exhibit cardiomyocyte hypertrophy

cardiac interstitial fibrosis ( J:243628 )

♀ • 13 month postpartum females exhibit patchy areas of interstitial and perivascular fibrosis

increased cardiac muscle contractility ( J:243628 )

• heart contractility is enhanced

decreased cardiac muscle relaxation ( J:243628 )

• heart relaxation is impaired, with the time constant of relaxation prolonged

abnormal myocardial fiber physiology ( J:243628 )

• skinned papillary muscle from 6 week 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

increased response of heart to induced stress ( J:243628 )

♀ • females stressed by pregnancy develop cardiac pathology

♀ • however, males and nulliparous females exhibit no discernible heart pathology at any age

homeostasis/metabolism

increased response of heart to induced stress ( J:243628 )

♀ • females stressed by pregnancy develop cardiac pathology

♀ • however, males and nulliparous females exhibit no discernible heart pathology at any age

muscle

abnormal myocardial fiber morphology ( J:243628 )

♀ • some cardiomyocytes from parous females show features of hypoxia as evidenced by swollen mitochondria and large gaps between the sarcoplasmic reticulum, mitochondria, and sarcomeres

increased cardiac muscle contractility ( J:243628 )

• heart contractility is enhanced

decreased cardiac muscle relaxation ( J:243628 )

• heart relaxation is impaired, with the time constant of relaxation prolonged

growth/size/body

cardiac hypertrophy ( J:243628 )

♀ • 13 month postpartum females exhibit cardiomyocyte hypertrophy

cellular

cardiac interstitial fibrosis ( J:243628 )

♀ • 13 month postpartum females exhibit patchy areas of interstitial and perivascular fibrosis

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