Phenotypes Associated with This Genotype

Genotype
MGI:3814057

• Allelic Composition: Tg(SOD1*G37R)29Dpr/0
• Genetic Background: involves: C3H/HeJ * C57BL/6J

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

nervous system

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

abnormal motor neuron mitochondrial morphology ( J:69178 )

• motor neurons exhibit mitochondrial degradation

decreased motor neuron number ( J:69178 )

• at late stages

motor neuron degeneration ( J:69178 )

• motor neuron degeneration is observed in the ventral horns of the lumbar, thoracic, and cervical spinal cord as well as the brain stem

• degeneration is associated with vacuole formation in both dendrites and axons of motor neurons

behavior/neurological

tremors ( J:69178 )

• at 6 to 8 months of age, mice exhibit axial tremors

weakness ( J:69178 )

• at 6 to 8 months of age, mice exhibit asymmetric weakness of the limbs and when suspended by their tail exhibit difficulties extending and moving hindlimbs

decreased locomotor activity ( J:69178 )

• at 6 to 8 months of age, mice exhibit decreased spontaneous movement compared to wild-type mice

hindlimb paralysis ( J:69178 )

• eventually mice develop hindlimb paralysis

muscle

muscular atrophy ( J:69178 )

• at 6 to 8 months of age, mice exhibit muscle wasting particularly along the flanks

abnormal muscle electrophysiology ( J:69178 )

• mice exhibit spontaneous, positive sharp waves associated with denervation atrophy

cellular

abnormal motor neuron mitochondrial morphology ( J:69178 )

• motor neurons exhibit mitochondrial degradation

growth/size/body

weight loss ( J:69178 )

• progressive

integument

rough coat ( J:69178 )

• at 6 to 8 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:69178 , J:119631