Phenotypes Associated with This Genotype

Genotype
MGI:3785390

• Allelic Composition: Tg(Thy1-SOD1*G93A)T3Hgrd/Tg(Thy1-SOD1*G93A)T3Hgrd
• Genetic Background: involves: C57BL/6 * CBA * FVB

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

growth/size/body

weight loss ( J:134095 )

• at end-stage, most mice display severe weight loss (>30%)

nervous system

abnormal brain morphology ( J:134095 )

• accumulation of argyrophilic neuronal debris is seen throughout medullary, pontine, and mesencephalic reticular formation up to zona incerta

astrocytosis ( J:134095 )

• signs of reactive gliosis are seen at disease end-stage

abnormal neurite morphology ( J:134095 )

• animals not displaying motor abnormalities show ubiquinated neurites in spinal cord

abnormal neuromuscular synapse morphology ( J:134095 )

• in mice at end-stage, denervation is observed at neuromuscular synapses

neuron degeneration ( J:134095 )

• appears restricted to brainstem and spinal cord

abnormal spinal cord morphology ( J:134095 )

• accumulation of argyrophilic neuronal debris is seen in spinal cord of mice at end-stage of disease; similar amounts are seen between left and right, and lumbar and cervical segments

decreased motor neuron number ( J:134095 )

• loss of motor neurons is detected at disease end-stage

behavior/neurological

abnormal motor coordination/balance ( J:134095 )

• at end-stage, severe locomotor deficits are exhibited

impaired coordination ( J:134095 )

• at end-stage, loss of ability to hang in hanging wire test

abnormal grip strength ( J:134095 )

• loss of grip strength at end-stage of disease

muscle

progressive muscle weakness ( J:134095 )

• exhibited by most mice (60%) before 2 years of age; onset is observed at 378 to >730 days with end stage reached at >432 to >730 days

cellular

cellular phenotype ( J:134095 )

N • mice do not develop mitochondrial swelling and vacuolization like G1 or G1del mutants

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
amyotrophic lateral sclerosis type 1		DOID:0060193	OMIM:105400	J:134095