Phenotypes Associated with This Genotype

Genotype
MGI:5449421

• Allelic Composition: Tg(SOD1*)DF7Yaw/0
• Genetic Background: C57BL/6-Tg(SOD1*)DF7Yaw

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

mortality/aging

premature death ( J:97932 )

• mean age of death is 372 +/- 78 days

behavior/neurological

weakness ( J:97932 )

• mutants first show signs of hindlimb paraparesis and relatively symmetrical forelimb weakness (hemiparesis)

paraparesis ( J:97932 )

nervous system

gliosis ( J:97932 )

• reactive gliosis in the spinal cord, predominantly in the lower spinal cord

abnormal motor neuron morphology ( J:97932 )

• eosinophilic cytoplasmic inclusions are seen in the motor neurons that remain; inclusions resemble Lewy body-like hyaline inclusions, with the halo of inclusions composed of neurofilamentous structure and the core of granule-associated fibrils

motor neuron degeneration ( J:97932 )

• mean age of onset of motor neuron disease symptoms is 337 +/- 101 days

decreased spinal cord ventral horn cell number ( J:97932 )

• loss of anterior horn cells in the spinal cord, predominantly in the lower spinal cord

muscle

muscular atrophy ( J:97932 )

• muscle atrophy is seen at the end stage of disease

abnormal muscle physiology ( J:97932 )

• some mutants exhibit muscle cramps after exercise as a first symptom of disease

skeleton

kyphosis ( J:97932 )

cellular

gliosis ( J:97932 )

• reactive gliosis in the spinal cord, predominantly in the lower spinal cord

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
amyotrophic lateral sclerosis type 1		DOID:0060193	OMIM:105400	J:97932