Phenotypes associated with this allele

• Allele Symbol: Tg(SOD1*G37R)29Dpr
• Allele Name: transgene insertion 29, Donald L Price
• Allele ID: MGI:3574016
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cx1	Tg(NEFH)200Jpj/0 Tg(SOD1*G37R)29Dpr/0	involves: C3H/HeJ * C57BL/6 * C57BL/6J	MGI:4947056
cx2	Tg(NEFH)398Jpj/0 Tg(SOD1*G37R)29Dpr/0	involves: C3H/HeJ * C57BL/6 * C57BL/6J	MGI:4947061
tg3	Tg(SOD1*G37R)29Dpr/0	involves: C3H/HeJ * C57BL/6 * C57BL/6J	MGI:4947055
tg4	Tg(SOD1*G37R)29Dpr/0	involves: C3H/HeJ * C57BL/6J	MGI:3814057

Genotype
MGI:4947056

cx1

• Allelic Composition: Tg(NEFH)200Jpj/0; Tg(SOD1*G37R)29Dpr/0
• Genetic Background: involves: C3H/HeJ * C57BL/6 * C57BL/6J

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

mortality/aging

premature death ( J:69179 )

• extended mean longevity by about 6 months, compared with Tg(SOD1*G37R)29Dpr/0 mice

• all the mice are still alive after 1 year

• average lifespan is 15.8 months

behavior/neurological

paralysis ( J:69179 )

• delayed onset of paralysis

• occur shortly before death with a period of about 2 weeks duration

nervous system

motor neuron degeneration ( J:69179 )

• axonal atrophy

• prominent perikaryal neurofilamentous accumulations

• no massive axonal loss and cell death in the motor axons in one-year old mice

decreased sensory neuron number ( J:69179 )

• axonal atrophy

• prominent perikaryal neurofilamentous accumulations

• no massive axonal loss and cell death in the sensory axons in one-year old mice

Genotype
MGI:4947061

cx2

• Allelic Composition: Tg(NEFH)398Jpj/0; Tg(SOD1*G37R)29Dpr/0
• Genetic Background: involves: C3H/HeJ * C57BL/6 * C57BL/6J

mortality/aging

premature death ( J:69179 )

• extended mean longevity by about 2 months, compared with Tg(SOD1*G37R)29Dpr/0 mice

nervous system

motor neuron degeneration ( J:69179 )

• less axonal loss and cell death in the motor axons in one-year old mice, compared with Tg(SOD1*G37R)29Dpr/0 mice

decreased sensory neuron number ( J:69179 )

• less axonal loss and cell death in the sensory axons in one-year old mice, compared with Tg(SOD1*G37R)29Dpr/0 mice

Genotype
MGI:4947055

tg3

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

mortality/aging

premature death ( J:69179 , J:144848 )

• mean life expectancy is 9.5 months (J:69179)

• most of the mice (75%) die before 1 year old (J:69179)

• mean life span is 50.5 +/- 2.6 weeks (J:144848)

• increased mean life span and more surviving neurons after injection of lipophilic iron chelator SIH intraperitoneally (J:144848)

nervous system

motor neuron degeneration ( J:69179 )

• massive axonal loss and cell death in the motor axons in one-year old mice

decreased sensory neuron number ( J:69179 )

• massive axonal loss and cell death in the sensory axons in one-year old mice

growth/size/body

weight loss ( J:144848 )

• body weight drop between 47.5 and 50 weeks of age

• no changes in body weight when treated twice a week with SIH during this period

homeostasis/metabolism

abnormal iron homeostasis ( J:144848 )

• increased mitochondrial ferritin in the ventral horn motor neurons and astrocytes in the spinal cord at 12 months of age

abnormal iron level ( J:144848 )

• iron accumulation (56% increase) in the spinal cord at 12 months of age

• small, round cytoplasmic inclusions in the cell bodies of the large ventral horn motor neurons

• a more diffuse accumulation in the entire cell body in some glial cells in the gray and white matter

Genotype
MGI:3814057

tg4

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

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