Phenotypes Associated with This Genotype

Genotype
MGI:5448549

• Allelic Composition: Tg(SOD1)2Gur/0; Tg(SOD1*G85R)#Roos/0
• Genetic Background: involves: C57BL/6 * C57BL/6J * SJL

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

mortality/aging

premature death ( J:147156 )

• mean survival is 185 days

behavior/neurological

hindlimb paralysis ( J:147156 )

• progressive paralysis

• earlier onset (at about 131 days of age) of disease than single Tg(SOD1*G85R)#Roos mutants (at around 307 days of age), however disease duration is similar

growth/size/body

weight loss ( J:147156 )

• weight loss begins at 131 days of age

nervous system

astrocytosis ( J:147156 )

• in the anterior horn of the spinal cord at 150 days of age

abnormal motor neuron morphology ( J:147156 )

• SOD1-immunoreactive aggregates (of G85R mutant and wild-type SOD1 heterodimers, wild-type SOD1 homodimers and G85R mutant homodimers) are seen in motor neuron cells in the anterior horn at 150 days of age

motor neuron degeneration ( J:147156 )

• loss of motor neurons at 150 days of age and loss of motor neuron connections with muscle in the lumbar spinal cord anterior horn

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
amyotrophic lateral sclerosis type 1		DOID:0060193	OMIM:105400	J:147156