Phenotypes Associated with This Genotype

Genotype
MGI:5297589

• Allelic Composition: Tg(SOD1*H46R)#Maw/0
• Genetic Background: involves: C57BL/6 * DBA/2

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

premature death ( J:99701 )

• most mutants die by 24 weeks of age

behavior/neurological

abnormal motor capabilities/coordination/movement ( J:99701 )

• 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

impaired coordination ( J:99701 )

• mutants fall off the rotarod within 420 seconds with onset of disease, starting at around 138 day of age

muscle

muscle degeneration ( J:99701 )

• progressive muscle wasting in the limbs, leading to death due to inability to reach the water supply

progressive muscle weakness ( J:99701 )

• mutants first present with weakness in hindlimbs, as indicated by dragging of one limb

nervous system

neuronal intranuclear inclusions ( J:99701 )

• 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

abnormal spinal cord ventral horn morphology ( J:99701 )

• 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

decreased spinal cord ventral horn cell number ( J:99701 )

• 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

abnormal astrocyte physiology ( J:99701 )

• 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	J:99701