Phenotypes Associated with This Genotype

Genotype
MGI:3588988

• Allelic Composition: Myl2^tm1(cre)Krc/Myl2⁺; Tsc1^tm1Djk/Tsc1^tm1Djk
• Genetic Background: involves: 129S4/SvJae

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

mortality/aging

premature death ( J:96138 )

• midian survival was 6 months

• none survived past 8 months

cardiovascular system

pulmonary vascular congestion ( J:96138 )

• pulmonary congestion

abnormal myocardial fiber morphology ( J:96138 )

• focal appearance of enlarged cardiac myocytes with apparent vacuoles

• scattered intramural foci of enlarged cells with excess glycogen revealed by histologic studies at 2 and 5 month of age

• there was no evidence of proliferative cardiac tumors

increased myocardial fiber size ( J:96138 )

dilated cardiomyopathy ( J:96138 )

• with heart enlargement and pulmonary congestion

• a significant increase in LV end-diastolic diameter and LV end-systolic diameter, and a reduction in fractional shortening in 2- to 3-month-old mutant mice by echocardiographic analysis

• increase in heart weight, heart/body weight ratio and heart weight/tibial length ratio

decreased cardiac muscle contractility ( J:96138 )

• a significant increase in LV end-diastolic diameter and LV end-systolic diameter, and a reduction in fractional shortening in 2- to 3-month-old mutant mice by echocardiographic analysis

muscle

abnormal myocardial fiber morphology ( J:96138 )

• focal appearance of enlarged cardiac myocytes with apparent vacuoles

• scattered intramural foci of enlarged cells with excess glycogen revealed by histologic studies at 2 and 5 month of age

• there was no evidence of proliferative cardiac tumors

increased myocardial fiber size ( J:96138 )

dilated cardiomyopathy ( J:96138 )

• with heart enlargement and pulmonary congestion

• a significant increase in LV end-diastolic diameter and LV end-systolic diameter, and a reduction in fractional shortening in 2- to 3-month-old mutant mice by echocardiographic analysis

• increase in heart weight, heart/body weight ratio and heart weight/tibial length ratio

decreased cardiac muscle contractility ( J:96138 )

• a significant increase in LV end-diastolic diameter and LV end-systolic diameter, and a reduction in fractional shortening in 2- to 3-month-old mutant mice by echocardiographic analysis

homeostasis/metabolism

abnormal atrial thrombosis ( J:96138 )

• the presence of thrombus in the left atrium in some

respiratory system

pulmonary vascular congestion ( J:96138 )

• pulmonary congestion

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
tuberous sclerosis		DOID:13515	OMIM:PS191100	J:96138