Mouse Genome Informatics
cx1
    Tg(NEFH)200Jpj/0
Tg(SOD1*G37R)29Dpr/0

involves: C3H/HeJ * C57BL/6 * C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• all the mice are still alive after 1 year
• average lifespan is 15.8 months
• extended mean longevity by about 6 months, compared with Tg(SOD1*G37R)29Dpr/0 mice

behavior/neurological
• delayed onset of paralysis
• occur shortly before death with a period of about 2 weeks duration

nervous system
• axonal atrophy
• prominent perikaryal neurofilamentous accumulations
• no massive axonal loss and cell death in the motor axons in one-year old mice
• axonal atrophy
• prominent perikaryal neurofilamentous accumulations
• no massive axonal loss and cell death in the sensory axons in one-year old mice


Mouse Genome Informatics
cx2
    Tg(NEFH)398Jpj/0
Tg(SOD1*G37R)29Dpr/0

involves: C3H/HeJ * C57BL/6 * C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• extended mean longevity by about 2 months, compared with Tg(SOD1*G37R)29Dpr/0 mice

nervous system
• less axonal loss and cell death in the motor axons in one-year old mice, compared with Tg(SOD1*G37R)29Dpr/0 mice
• less axonal loss and cell death in the sensory axons in one-year old mice, compared with Tg(SOD1*G37R)29Dpr/0 mice


Mouse Genome Informatics
tg3
    Tg(SOD1*G37R)29Dpr/0
involves: C3H/HeJ * C57BL/6 * C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• mean life expectancy is 9.5 months (J:69179)
• most of the mice (75%) die before 1 year old (J:69179)
• mean life span is 50.5 +/- 2.6 weeks (J:144848)
• increased mean life span and more surviving neurons after injection of lipophilic iron chelator SIH intraperitoneally (J:144848)

nervous system
• massive axonal loss and cell death in the motor axons in one-year old mice
• massive axonal loss and cell death in the sensory axons in one-year old mice

growth/size
• body weight drop between 47.5 and 50 weeks of age
• no changes in body weight when treated twice a week with SIH during this period

homeostasis/metabolism
• increased mitochondrial ferritin in the ventral horn motor neurons and astrocytes in the spinal cord at 12 months of age
• iron accumulation (56% increase) in the spinal cord at 12 months of age
• small, round cytoplasmic inclusions in the cell bodies of the large ventral horn motor neurons
• a more diffuse accumulation in the entire cell body in some glial cells in the gray and white matter


Mouse Genome Informatics
tg4
    Tg(SOD1*G37R)29Dpr/0
involves: C3H/HeJ * C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
nervous system
• numerous ubiquitin-immunoreactive, Thioflavin-S positive fibrillar protein aggregates resembling hyaline inclusions are seen in the spinal cord, ventral midbrain, and the brain stem, with fewer in the cerebellum
• at late stages
• motor neuron degeneration is observed in the ventral horns of the lumbar, thoracic, and cervical spinal cord as well as the brain stem
• degeneration is associated with vacuole formation in both dendrites and axons of motor neurons

behavior/neurological
• at 6 to 8 months of age, mice exhibit axial tremors
• at 6 to 8 months of age, mice exhibit asymmetric weakness of the limbs and when suspended by their tail exhibit difficulties extending and moving hindlimbs
• at 6 to 8 months of age, mice exhibit decreased spontaneous movement compared to wild-type mice
• eventually mice develop hindlimb paralysis

muscle
• at 6 to 8 months of age, mice exhibit muscle wasting particularly along the flanks
• mice exhibit spontaneous, positive sharp waves associated with denervation atrophy

cellular
• motor neurons exhibit mitochondrial degradation

growth/size
• progressive

integument
• at 6 to 8 months of age

Mouse Models of Human Disease
OMIM IDRef(s)
Amyotrophic Lateral Sclerosis 1; ALS1 105400 J:69178 , J:119631