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Phenotypes Associated with This Genotype
Genotype
MGI:5499112
Allelic
Composition
Tg(Myl1-SOD1*G93A)#Amu/0
Genetic
Background
FVB/NJ-Tg(Myl1-SOD1*G93A)#Amu
Find Mice Using the International Mouse Strain Resource (IMSR)
No mouse lines available in IMSR.
See publication links below for author information.
phenotype observed in females
phenotype observed in males
N normal phenotype
muscle
• Z lines of adjacent myofibrils tend to lose register with one another
• fibers in EDL muscles show partial loss or misalignment of sarcomeres
• sarcoplasmic reticulum in muscle fibers is often abnormally fragemented and fragmented vesicles are seen just below the sarcolemma
• fibers in EDL muscles show altered internal organization, partial loss or misalignment of sarcomeres, changes of mitochondrial morphology and of their sarcomeric disposition, and disorganization of the sarcotubular system
• transverse-tubule organization is altered in muscle, with T-tubules curving into an L-like structure that progresses to a vesicle-like structure encompassing amorphous cellular material instead of running perpendicularly to the long axis of the fiber
• skeletal muscle atrophy is first detectable at 4 weeks of age and increases into adulthood
• mice treated with Trolox, a cell-permeable water-soluble derivative of vitamin E, show a reduced toxic effect of ROS, rescuing the muscle phenotype
• decreased tetanic and specific force generation of 37% for extensor digitorum longus and 39% for soleus muscle
• analysis of isotonic fatigue shows that stimulation of extensor digitorum longus (EDL) and soleus in the first seconds of fatigue produces work of about 38% less than wild-type muscles, and EDL and soleus stop shortening about 7 seconds and 15 seconds, respectively, before wild-type controls

cellular
• mitochondria in fibers are often clustered in abnormal longitudinal rows between the myofibrils and/or large clusters located just under the sarcolemma
• mitochondria in muscle fibers are frequently abnormally shaped, larger in size, and have a translucent appearance, edematous internal matrix with abnormal and/or missing internal cristae, vacuolization, and myelin-like figures
• disrupted mitochondria in muscle fibers appear to be enveloped in membranous sacks
• mitochondria in muscle fibers have an edematous internal matrix with abnormal and/or missing internal cristae
• mitochondria in muscle fibers are frequently abnormally shaped
• mitochondria in muscle fibers are frequently larger in size
• malondialdehyde is elevated in the sarcolemma of muscle fibers and in the spinal cord, indicating lipid oxidative damage in these areas

homeostasis/metabolism
• superoxide dismutase and catalase activity are increased in muscles compared to wild-type mice
• glutathione reductase activity in muscles is reduced

immune system
• microglia activation is seen in the spinal cord, but astrocyte activity is similar to wild-type
• however, motor neuron degeneration is not observed

nervous system
• microglia activation is seen in the spinal cord, but astrocyte activity is similar to wild-type
• however, motor neuron degeneration is not observed

hematopoietic system
• microglia activation is seen in the spinal cord, but astrocyte activity is similar to wild-type
• however, motor neuron degeneration is not observed

Mouse Models of Human Disease
OMIM ID Ref(s)
Amyotrophic Lateral Sclerosis 1; ALS1 105400 J:143747


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
07/19/2016
MGI 6.04
The Jackson Laboratory