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Phenotypes Associated with This Genotype
Genotype
MGI:3639520
Allelic
Composition
Tg(Myh6-Acsl1)O7Jesc/0
Genetic
Background
FVB/N-Tg(Myh6-Acsl1)O7Jesc
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tg(Myh6-Acsl1)O7Jesc mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• at the time of death, heart weight relative to body weight is increased; degree of cardiomegaly is more than in transgenic lines J3 and M13
• exhibit a 54% increase in cell size in ventricular tissue
• increase in left ventricular mass developing at 3 weeks of age and progressively increasing over time; develop concentric left-ventricular hypertrophy with preserved systolic function at an early age (3 weeks), followed by a transition to eccentric hypertrophy and marked reduction of systolic function

mortality/aging
• display significant morbidity and mortality; all die by 100 days of age of heart failure

homeostasis/metabolism
• develops as early as 4 weeks of age
• exhibit lipid accumulation in cardiac myocytes
• observe a 50% increase in choline glycerophospholipids and a 15% increase in ethanolamine glycerophospholipids in the heart
• for both choline and ethanolamine glycerophospholipids there is a shift in fatty acid composition at the SN-2 position, with increases in 18:1, 18:2, and 20:4 species and decreases in 20:6
• display a 12-fold increase in triglyceride content with broad acyl-chain dristribution (C14 to C18), including both saturated and unsaturated species, in the heart

cardiovascular system
• exhibit lipid accumulation in cardiac myocytes
• at the time of death, heart weight relative to body weight is increased; degree of cardiomegaly is more than in transgenic lines J3 and M13
• exhibit a 54% increase in cell size in ventricular tissue
• increase in left ventricular mass developing at 3 weeks of age and progressively increasing over time; develop concentric left-ventricular hypertrophy with preserved systolic function at an early age (3 weeks), followed by a transition to eccentric hypertrophy and marked reduction of systolic function
• wall thickness is increased at 3 weeks of age but subsequently decreased below controls
• seen in 28-week old mutants
• exhibit normal fractional shortening at 2 and 3 weeks of age but marked deterioration of systolic performance from 4 weeks onward
• seen from 4 weeks of age onward
• exhibit an increase in TUNEL-positive cells, significant cytochrome c release from mitochondria, and a 3.3-fold increase in total cardiac ceramide content, indicating increased apoptosis
• develop metabolic/lipotoxic cardiomyopathy
• develop heart failure as early as 4 weeks of age

behavior/neurological
• develops as early as 4 weeks of age

muscle
• exhibit lipid accumulation in cardiac myocytes
• increase in left ventricular mass developing at 3 weeks of age and progressively increasing over time; develop concentric left-ventricular hypertrophy with preserved systolic function at an early age (3 weeks), followed by a transition to eccentric hypertrophy and marked reduction of systolic function
• exhibit normal fractional shortening at 2 and 3 weeks of age but marked deterioration of systolic performance from 4 weeks onward
• exhibit an increase in TUNEL-positive cells, significant cytochrome c release from mitochondria, and a 3.3-fold increase in total cardiac ceramide content, indicating increased apoptosis
• develop metabolic/lipotoxic cardiomyopathy

respiratory system
• develop shortness of breath as early as 4 weeks of age

cellular
• exhibit an increase in TUNEL-positive cells, significant cytochrome c release from mitochondria, and a 3.3-fold increase in total cardiac ceramide content, indicating increased apoptosis

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
cardiomyopathy DOID:0050700 J:68639


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
04/13/2021
MGI 6.16
The Jackson Laboratory