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Phenotypes Associated with This Genotype
involves: C57BL/6 * DBA/2
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phenotype observed in females
phenotype observed in males
N normal phenotype
• most mutants die by 24 weeks of age

• 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

• 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
DO ID OMIM ID(s) Ref(s)
amyotrophic lateral sclerosis type 1 DOID:0060193 OMIM:105400

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
MGI 6.12
The Jackson Laboratory