Mouse Genome Informatics
tg
    Tg(SOD1*H46R)#Maw/0
involves: C57BL/6 * DBA/2
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• most mutants die by 24 weeks of age

behavior/neurological
• motor dysfunction occurs at about 20 weeks of age
• mutants treated with recombinant human LGALS1 (GAL1) show alleviation of disease symptoms, with mice surviving longer, showing improved motor function and improved motor neuron survival
• mutants fall off the rotarod within 420 seconds with onset of disease, starting at around 138 day of age

muscle
• progressive muscle wasting in the limbs, leading to death due to inability to reach the water supply
• mutants first present with weakness in hindlimbs, as indicated by dragging of one limb

nervous system
• eosinophilic inclusion bodies similar to Lewy body-like hyaline inclusions in human amyotrophic lateral sclerosis are seen in the anterior horns
• however, mutants do not exhibit any remarkable vacuoles in cell bodies, dendrites or axons
• neurite swellings are seen in the anterior horn by 147 days of age
• severe decrease in the number of anterior horn neurons with diffuse astrocytic proliferation is seen at the end of life
• at 119 days of age (late presymptomatic stage), large anterior horn cells are decreased in number, with a marked loss of these cells by 147 days of age
• astrocytic proliferation is seen by 147 day s of age in the anterior horn

Mouse Models of Human Disease
OMIM IDRef(s)
Amyotrophic Lateral Sclerosis 1; ALS1 105400 J:99701