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Phenotypes Associated with This Genotype
Genotype
MGI:2178322
Allelic
Composition
Destm1Cap/Destm1Cap
Genetic
Background
involves: 129S7/SvEvBrd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Destm1Cap mutation (0 available); any Des mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Myocardium degeneration and calcification in Destm1Cap/Destm1Cap mice

mortality/aging
• 6% of homozygotes die suddenly before reaching 1 year of age (J:59831)
• 6% of homozygotes die suddenly before reaching 1 year of age (J:59831)

cardiovascular system
• detachment of fibers from the sarcolemma (J:35123)
• disorganized mitochondria (J:35123)
• loss of myocardial fiber tension (J:35123)
• interstitial fibrosis and necrosis (J:35123)
• loss of myocardial fiber tension (J:35123)
• interstitial fibrosis and necrosis (J:35123)
• detachment of fibers from the sarcolemma (J:35123)
• disorganized mitochondria (J:35123)
• a 24% increase in average cell volume of ventricular myocytes at 7 months, with no changes in cell length or profile area (J:59831)
• a 24% increase in average cell volume of ventricular myocytes at 7 months, with no changes in cell length or profile area (J:59831)
• loss of lateral alignment (J:35123)
• loss of lateral alignment (J:35123)
• areas of disorganized and ragged myocytes, as commonly observed in hypertrophic myocardium (J:59831)
• areas of disorganized and ragged myocytes, as commonly observed in hypertrophic myocardium (J:59831)
• moderate to severe thinning of myocardial wall after sudden death (J:59831)
• moderate to severe thinning of myocardial wall after sudden death (J:59831)
• mild heart enlargement is frequently observed in the absence of stress (J:59831)
• severe heart enlargement is noted after sudden death or after exercise-induced stress (J:59831)
• prominent heart enlargement and ventricular dilation also observed in aging homozygotes (J:59831)
• mild heart enlargement is frequently observed in the absence of stress (J:59831)
• severe heart enlargement is noted after sudden death or after exercise-induced stress (J:59831)
• prominent heart enlargement and ventricular dilation also observed in aging homozygotes (J:59831)
• a 20% increase in HW/BW ratio by 1 month of age or later (J:59831)
• concentric cellular hypertrophy of ventricular myocytes, with normal major diameters but a 30% increase in minor diameters at 7 months (J:59831)
• changes in expression pattern of hypertrophic markers associated with pressure overload hypertrophy at 1 and 6 months (J:59831)
• a 20% increase in HW/BW ratio by 1 month of age or later (J:59831)
• concentric cellular hypertrophy of ventricular myocytes, with normal major diameters but a 30% increase in minor diameters at 7 months (J:59831)
• changes in expression pattern of hypertrophic markers associated with pressure overload hypertrophy at 1 and 6 months (J:59831)
• slight dilation of left ventricle in the absence of stress, with no severe changes in myocardial wall thickness (J:59831)
• severe dilation of the left ventricle after sudden death, with moderate to severe thinning of myocardial wall (J:59831)
• slight dilation of left ventricle in the absence of stress, with no severe changes in myocardial wall thickness (J:59831)
• severe dilation of the left ventricle after sudden death, with moderate to severe thinning of myocardial wall (J:59831)
• slight dilation of right ventricle in the absence of stress, with no severe changes in myocardial wall thickness (J:59831)
• severe dilation of the right ventricle after sudden death, with moderate to severe thinning of myocardial wall (J:59831)
• slight dilation of right ventricle in the absence of stress, with no severe changes in myocardial wall thickness (J:59831)
• severe dilation of the right ventricle after sudden death, with moderate to severe thinning of myocardial wall (J:59831)
• progressive calcification and degeneration, particularly of the left ventricle, evident by 3 weeks of age (J:35123)
• progressive calcification and degeneration, particularly of the left ventricle, evident by 3 weeks of age (J:35123)
• calcified lesions and areas of fibrous replacement of myocardial tissue as early as 1 week after birth; most prominent in the right ventricle and toward the inner and outer surfaces of the myocardium (J:59831)
• calcified lesions and areas of fibrous replacement of myocardial tissue as early as 1 week after birth; most prominent in the right ventricle and toward the inner and outer surfaces of the myocardium (J:59831)
• significantly impaired systolic function (reduced peak aortic flow velocity and average aortic acceleration) at 13-14 months of age, with a 20% reduction in peak aortic flow velocity evident at 3-13 months or later (J:59831)
• significantly impaired systolic function (reduced peak aortic flow velocity and average aortic acceleration) at 13-14 months of age, with a 20% reduction in peak aortic flow velocity evident at 3-13 months or later (J:59831)
• enhanced diastolic function at 3 months of age (increased ratios of E/A peak velocities and areas), no longer evident after 13 months (J:59831)
• enhanced diastolic function at 3 months of age (increased ratios of E/A peak velocities and areas), no longer evident after 13 months (J:59831)
• progressive calcification and degeneration, particularly of the left ventricle, evident by 3 weeks of age (J:35123)
• lesions appeared to progress from the exterior of the myocardium inward (J:35123)
• progressive calcification and degeneration, particularly of the left ventricle, evident by 3 weeks of age (J:35123)
• lesions appeared to progress from the exterior of the myocardium inward (J:35123)

muscle
• loss of myocardial fiber tension (J:35123)
• interstitial fibrosis and necrosis (J:35123)
• detachment of fibers from the sarcolemma (J:35123)
• disorganized mitochondria (J:35123)
• loss of myocardial fiber tension (J:35123)
• interstitial fibrosis and necrosis (J:35123)
• detachment of fibers from the sarcolemma (J:35123)
• disorganized mitochondria (J:35123)
• a 24% increase in average cell volume of ventricular myocytes at 7 months, with no changes in cell length or profile area (J:59831)
• a 24% increase in average cell volume of ventricular myocytes at 7 months, with no changes in cell length or profile area (J:59831)
• significantly impaired systolic function (reduced peak aortic flow velocity and average aortic acceleration) at 13-14 months of age, with a 20% reduction in peak aortic flow velocity evident at 3-13 months or later (J:59831)
• significantly impaired systolic function (reduced peak aortic flow velocity and average aortic acceleration) at 13-14 months of age, with a 20% reduction in peak aortic flow velocity evident at 3-13 months or later (J:59831)
• enhanced diastolic function at 3 months of age (increased ratios of E/A peak velocities and areas), no longer evident after 13 months (J:59831)
• enhanced diastolic function at 3 months of age (increased ratios of E/A peak velocities and areas), no longer evident after 13 months (J:59831)
• progressive calcification and degeneration, particularly of the left ventricle, evident by 3 weeks of age (J:35123)
• lesions appeared to progress from the exterior of the myocardium inward (J:35123)
• progressive calcification and degeneration, particularly of the left ventricle, evident by 3 weeks of age (J:35123)
• lesions appeared to progress from the exterior of the myocardium inward (J:35123)
• similar abnormalities as observed in cardiac muscle, but to a lesser extent (J:35123)
• ragged, disorganized fibers with a loss of tension (J:35123)
• disorganized mitochondria (J:35123)
• increased severity of myofibril defects in muscles with high usage (e.g. tongue muscle) (J:35123)
• similar abnormalities as observed in cardiac muscle, but to a lesser extent (J:35123)
• ragged, disorganized fibers with a loss of tension (J:35123)
• disorganized mitochondria (J:35123)
• increased severity of myofibril defects in muscles with high usage (e.g. tongue muscle) (J:35123)
• defects similar to those observed in striated muscle, but less severe (J:35123)
• defects similar to those observed in striated muscle, but less severe (J:35123)
• degeneration of striated muscle (J:35123)
• more severe in cardiac muscle (J:35123)
• degeneration of striated muscle (J:35123)
• more severe in cardiac muscle (J:35123)

behavior/neurological
• noted by 2 weeks of age (J:35123)
• noted by 2 weeks of age (J:35123)
• 50% of homozygotes show impaired excercise capacity and die during swimming (J:59831)
• 50% of homozygotes show impaired excercise capacity and die during swimming (J:59831)

homeostasis/metabolism
• 50% of homozygotes show impaired excercise capacity and die during swimming (J:59831)
• 50% of homozygotes show impaired excercise capacity and die during swimming (J:59831)


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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory