Mouse Genome Informatics
tg
    Tg(SOD1*G93A)2Gur/0
involves: C57BL/6 * SJL
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• animals are moribund by 5 months of age

growth/size/body
• weight loss starting around 13 weeks of age

behavior/neurological
• impaired grooming evident at 3 to 4 months
• mutants extend their hind legs less than normal when lifted by the tail
• develop a tremor of the hindlimbs when suspended in the air (J:32665)
• fine hind limb tremors starting around 12 weeks (J:89928)
• consistently worse performance than the control animals on the rotarod
• decline steadily after 15 weeks of age for the rotarod, around 12 weeks for the hanging wire
• unable to remain on the rotarod at 19 weeks of age, or 20 weeks for the hanging wire
• the hanging wire test has a higher diagnostic accuracy
• normal limb posture when not moving, however after initiation of movement, hindlimbs and toes frequently lock in a hyperextended position
• 4mutants become paralyzed in one or more limbs after 5 months of age

muscle
• hindlimb weakness evident at 3 to 4 months

nervous system
• intraneuronal vacuoles and vacuoles in the surrounding neuropil
• intraneuronal vacuoles and vacuoles in the surrounding neuropil in the brainstem
• swollen axons with a dense or vacuolated axoplasm at 163 days of age
• irregular myelin sheeths in contour
• irregular frayed myelin sheeths
• decreased numbers of axons in anterior root at 113 days of age
• swollen axons, with a dense or vacuolated axoplasm
• irregular myelin sheeths in contour
• irregular frayed myelin sheeths
• macrophages with myelin debris
• exquisite localization of vacuoles to the cytoplasm of the large motor neurons of the spinal anterior horns, particularly in the lateral portions at 73 days of age
• vacuoles inside the neuronal cell bodies and in the surrounding neuropil at 163 days of age
• loss of choline acetyltransferase-containing spinal motor neurons, particularly in the ventral spinal cord (J:32665)
• decreased size of the anterior horns at 180 days of age (J:78629)
• severe loss of motor neurons (J:78629)
• surviving neurons are atropic with an irregular contour and eosinophilic hyaline inclusions (J:78629)
• exquisite localization of vacuoles to the cytoplasm of the large motor neurons of the spinal anterior horns, particularly in the lateral portions at 73 days of age
• vacuoles inside the neuronal cell bodies and in the surrounding neuropil at 163 days of age
• decreased size of the anterior horns at 180 days of age
• swollen axons, some with axoplasmic vesicles in their course from the anterior horn to the anterior root at 163 days of age
• mild swelling nerve fibers in the intermediate zone of the posterior columns and posterior roots
• swollen axons, with a dense or vacuolated axoplasm in lateral columns at 180 days of age
• irregular frayed myelin sheeths
• vacuolation of axoplasm at 163 days of age
• axonal swellings with a dense axoplasmic appearance
• irregular myelin sheeths in contour
• irregular frayed myelin sheeths
• swollen axons, with a dense or vacuolated axoplasm in anterior columns at 180 days of age
• loss of large myelinated axons in intramuscular nerves and from ventral motor roots
• rarely greatly expanded axonal profiles pack with dense fibrillary

cellular
• vacuoles in the rough endoplasmic reticulum
• vacuoles in the mitochondrion
• large vacuoles cause linearization of the entire structure

integument
• coats develop a coarse appearance

Mouse Models of Human Disease
OMIM IDRef(s)
Amyotrophic Lateral Sclerosis 1; ALS1 105400 J:32665 , J:78629 , J:89928