Phenotypes Associated with This Genotype

Genotype
MGI:5621062

• Allelic Composition: Tg(SOD1*L126Z)45Dbo/0
• Genetic Background: involves: C3H/HeJ * C57BL/6J

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

behavior/neurological

paralysis ( J:219482 )

• mice develop paralysis between 7 and 9 months of age

hematopoietic system

microgliosis ( J:219482 )

immune system

microgliosis ( J:219482 )

mortality/aging

premature death ( J:219482 )

• mice die by around 10 months of age

nervous system

microgliosis ( J:219482 )

astrocytosis ( J:219482 )

abnormal spinal cord morphology ( J:219482 )

• spinal cords accumulate ubiquitin immunoreactive inclusions

• however, thioflavin-S positive inclusions in brain stem or spinal cords or Lewy-body-like structures are not seen

abnormal motor neuron morphology ( J:219482 )

• spinal cords accumulate non-ubiquitinated detergent-insoluble truncated transgenic protein that are localized to motor neuron somatodendritic compartments

motor neuron degeneration ( J:219482 )

• massive loss of motor neurons with loss of fiber tracts

abnormal nervous system physiology ( J:219482 )

• mice develop stereotypical amyotrophic lateral sclerosis-like disease as early as 7 months of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
amyotrophic lateral sclerosis type 1		DOID:0060193	OMIM:105400	J:219482