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Phenotypes Associated with This Genotype
Genotype
MGI:3588988
Allelic
Composition
Myl2tm1(cre)Krc/Myl2+
Tsc1tm1Djk/Tsc1tm1Djk
Genetic
Background
involves: 129S4/SvJae
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Myl2tm1(cre)Krc mutation (3 available); any Myl2 mutation (12 available)
Tsc1tm1Djk mutation (1 available); any Tsc1 mutation (49 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• midian survival was 6 months
• none survived past 8 months

cardiovascular system
• pulmonary congestion
• 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
• 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
• 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
• 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
• 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
• 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
• the presence of thrombus in the left atrium in some

respiratory system
• pulmonary congestion

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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
11/06/2018
MGI 6.13
The Jackson Laboratory