Phenotypes Associated with This Genotype

Genotype
MGI:5448463

• Allelic Composition: Tg(SOD1*H46R*H48Q)139Dbo/0
• Genetic Background: involves: C3H/HeJ * C57BL/6J

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

behavior/neurological

hindlimb paralysis ( J:119631 )

• by 4-6 months of age

nervous system

astrocytosis ( J:119631 )

• astrocytic reactions in the ventral midbrain, brain stem, and spinal cord

abnormal neuron morphology ( J:119631 )

• 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

decreased motor neuron number ( J:119631 )

• reduction in the numbers of large motor neurons in spinal cords of paralyzed mutants

motor neuron degeneration ( J:119631 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
amyotrophic lateral sclerosis type 1		DOID:0060193	OMIM:105400	J:119631