Phenotypes Associated with This Genotype

Genotype
MGI:3693880

• Allelic Composition: Tg(SOD1*G93A)1Gur/0
• Genetic Background: B6.Cg-Tg(SOD1*G93A)1Gur/J

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

mortality/aging

premature death ( J:95812 , J:115355 , J:128550 , J:138237 , J:211734 )

• disease onset at 111+/-1.8 days (J:95812)

• die within 10+/-0.6 days of clinical disease onset (J:95812)

• maximal life span of 145 days (J:95812)

• mean time from onset of tremors to death is 16.5 +/-9.3 days (J:115355)

• Background Sensitivity: increased survival on C57BL/6J background (50% survival at 157.1+/-9.3 days) in contrast to B6SJL background (50% survival at 128.9+/-9.1 days) (J:115355)

• Background Sensitivity: increased survival on C57BL/6J background (143.6+/-7.5 days) in contrast to B6SJL/J background (130.2+/-11.2 days) (J:128550)

• survive from 19-22 weeks (J:138237)

• increased survival by weekly immunization with Copolymer-1 (9.9%) in female mice (J:138237)

• reconstitution with polyclonal-activated Treg and Teff subsets delays loss of motor function and extends survival (J:138237)

• reconstitution with Treg delays neurological symptom onset (J:138237)

• reconstitution with Teff increases latency between disease onset and entry into late stage (J:138237)

• average lifespan is 171.8 days (J:211734)

behavior/neurological

tremors ( J:115355 , J:138237 )

• observed hindlimb tremors when suspended by tail at 142.3 +/- 10.6 days (approx. 20 weeks) (J:115355)

• hind limb tremors at 14 weeks of age (J:138237)

impaired coordination ( J:211734 )

• mice show impaired performance on the rotarod and in hanging from a grid

abnormal gait ( J:115355 )

• exhibited longer stride and stance times as compared to C57BL/6J controls, however swing time difference was not significant

long stride length ( J:138237 )

muscle

decreased skeletal muscle fiber diameter ( J:95812 )

• at 112 d and 123 d compared with wild-type mice

• severe muscle atrophy at 123 d

abnormal skeletal muscle fiber type ratio ( J:95812 )

• altered fiber type composition at 80 d with a shift toward a fast fiber type

nervous system

decreased motor neuron number ( J:95812 )

• progressive reduction in the number of motor neuron from clinical onset to end-stage disease

• a reduction of 37 and 55% in the number of motor neurons at clinical onset (112 d) and at end-stage disease (123 d), respectively

motor neuron degeneration ( J:211734 )

• average onset of motor neuron degeneration is 137.4 days

immune system

abnormal spleen morphology ( J:138237 )

• diminished follicular area by 67% with a greater number (41%) of follicles at end stage

decreased spleen weight ( J:138237 )

• reduced spleen weight (59%) at 22 weeks of age

decreased splenocyte number ( J:138237 )

• reduced viable spleen cell numbers (70%) at 22 weeks of age

abnormal T cell physiology ( J:138237 )

• progressively diminished proliferative capacity of T cells with age

hematopoietic system

abnormal spleen morphology ( J:138237 )

• diminished follicular area by 67% with a greater number (41%) of follicles at end stage

decreased spleen weight ( J:138237 )

• reduced spleen weight (59%) at 22 weeks of age

decreased splenocyte number ( J:138237 )

• reduced viable spleen cell numbers (70%) at 22 weeks of age

abnormal T cell physiology ( J:138237 )

• progressively diminished proliferative capacity of T cells with age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
amyotrophic lateral sclerosis type 1		DOID:0060193	OMIM:105400	J:211734