Phenotypes Associated with This Genotype

Genotype
MGI:3615354

• Allelic Composition: Des^tm1Cba/Des^tm1Cba
• Genetic Background: involves: 129S2/SvPas

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

cardiovascular system

abnormal aorta elastic fiber morphology ( J:32928 )

• at 42 days, the space between each elastin fiber is significantly reduced in mutant aortae

abnormal vascular smooth muscle morphology ( J:32928 )

• at 42 days, the space occupied by smooth muscle cells in the vessel wall is significantly reduced

abnormal myocardium layer morphology ( J:32928 )

• adult homozygotes exhibit calcification and degeneration of the cardiac muscle

abnormal myocardial fiber morphology ( J:32928 )

• at 42 days, myocardial fibers appear to be fragile and prone to breakage upon mechanical stress

myocardium necrosis ( J:32928 )

• at 42 days, homozygotes exhibit necrosis on the surface of the heart

cardiac fibrosis ( J:32928 )

• at 42 days, homozygotes display fibrosis at the surface of the right ventricle and in the septum

dystrophic cardiac calcinosis ( J:32928 )

• at ~30 days, mutant hearts display white spots corresponding to calcification, as confirmed by Kossa's method

hemorrhage ( J:32928 )

• at 42 days, homozygotes exhibit hemorrhaging on the surface of the heart

muscle

abnormal vascular smooth muscle morphology ( J:32928 )

• at 42 days, the space occupied by smooth muscle cells in the vessel wall is significantly reduced

abnormal myocardium layer morphology ( J:32928 )

• adult homozygotes exhibit calcification and degeneration of the cardiac muscle

abnormal myocardial fiber morphology ( J:32928 )

• at 42 days, myocardial fibers appear to be fragile and prone to breakage upon mechanical stress

myocardium necrosis ( J:32928 )

• at 42 days, homozygotes exhibit necrosis on the surface of the heart

abnormal skeletal muscle fiber morphology ( J:137067 )

• mitochondria lose association with Z-discs

• mitochondria found in focal aggregates in sarcoplasm and subsarcolemmal regions

skeletal muscle fiber necrosis ( J:137067 )

• numerous necrotic fibers in the soleus at 1 year

skeletal muscle fiber atrophy ( J:137067 )

• atrophic fibers seen at 1 year

increased skeletal muscle fiber size ( J:137067 )

• hypertrophic fibers seen at 1 year

centrally nucleated skeletal muscle fibers ( J:137067 )

• centrally nucleated fibers in the soleus at 1 year

decreased skeletal muscle fiber number ( J:137067 )

• marked reduction in total number of fibers

abnormal diaphragm morphology ( J:32928 )

• at 42 days, mutant diaphragms exhibit abnormal sarcomeres with no clear demarcation of I and A bands and disintegrated fibers with sparse filaments

• individual muscle fibers are commonly misaligned and disoriented

• in contrast, other muscles (e.g. limb muscles) exhibit normal sarcomere alignment up to 12 months of age

thin diaphragm muscle ( J:32928 )

• homozygotes display a thinner, transparent diaphragm relative to wild-type mice

cellular

myocardium necrosis ( J:32928 )

• at 42 days, homozygotes exhibit necrosis on the surface of the heart

skeletal muscle fiber necrosis ( J:137067 )

• numerous necrotic fibers in the soleus at 1 year