Phenotypes Associated with This Genotype

Genotype
MGI:4829786

• Allelic Composition: Tg(SOD1*G93A)1Gur/0
• Genetic Background: B6SJL-Tg(SOD1*G93A)1Gur

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

nervous system

abnormal neuron morphology ( J:144199 )

• about 20% lower glycinergic synapses (GlyT2-boutons) densities on lumbar spinal motoneurons in asymptomatic 8-week-old mice

• the density of GlyT2-boutons shows a slight recovery at 10 weeks of age compared with 8-week-old transgenic mice

• the number of GlyT2-boutons is reduced further at 12 and 14 weeks of age

• majority of GlyT2-boutons is lost at 16 weeks of age

• decreased number of Renshaw cells at 12 and 14 weeks of age

abnormal cholinergic neuron morphology ( J:144199 )

• decreased density of ChAT-boutons at 16 weeks of age

abnormal dendrite morphology ( J:149044 )

• reduction in dendrite length and branch nodes on basal dendrites of prelimbic/infralimbic medial prefrontal cortex neurons

• smaller diameter of basal dendrites on branch order one

abnormal dendritic spine morphology ( J:149044 )

• decreased spine density on basal dendrite segments of branch order four

abnormal spinal cord morphology ( J:144199 )

• cytoplasmic vacuoles in some motoneuron cell bodies and proximal dendrites in lumbar spinal cord at 10 weeks of age

• more apparent cytoplasmic vacuoles in motoneurons and more motoneurons possessed vacuoles at 12 weeks of age

abnormal motor neuron morphology ( J:144199 )

• cytoplasmic vacuoles starting at 10 weeks of age

• swollen, degenerating axons with segmental enlargements in the ventral horn neuropil and white matter starting at 10 weeks of age

• the residual motoneurons tend to be smaller than that the typical alpha-motoneurons at 16 weeks of age

• the average size of motoneurons gradually increases from 10 weeks of age and reaches maximum at 12 weeks

• decreased number of mid-size (20-30 micrometer) motoneurons at 14 weeks of age

decreased motor neuron number ( J:144199 )

• decreased number of motoneurons at 14 weeks of age

• the number of motoneurons is reduced further at 16 weeks of age

motor neuron degeneration ( J:144199 )

• swollen, degenerating axons with segmental enlargements in the ventral horn neuropil at 10 weeks of age

• decreased number of motoneurons at 14 weeks of age

• the number of motoneurons is reduced further at 16 weeks of age

abnormal spinal cord interneuron morphology ( J:144199 )

• about 20% lower GlyT2-boutons densities on lumbar spinal motoneurons in asymptomatic 8-week-old mice

• the density of GlyT2-boutons shows a slight recovery at 10 weeks of age compared with 8-week-old transgenic mice

• the number of GlyT2-boutons is reduced further at 12 and 14 weeks of age

• majority of GlyT2-boutons is lost at 16 weeks of age

• decreased density of ChAT-boutons at 16 weeks of age

abnormal ventral interneuron 1 morphology ( J:149044 )

• decreased number of Renshaw cells at 12 and 14 weeks of age

abnormal spinal cord ventral horn morphology ( J:144199 )

• swollen, degenerating axons with segmental enlargements in the ventral horn neuropil at 10 weeks of age

abnormal spinal cord white matter morphology ( J:144199 )

• swollen, degenerating axons with segmental enlargements in the white matter at 10 weeks of age

cellular

abnormal mitochondrial morphology ( J:144199 )

• vacuoles in large swollen mitochondria in the cell bodies and proximal dendrites of some motoneurons and in dendrites within in the neuropil at 10 weeks of age

• fulminant mitochondrial swelling at 12 weeks of age

behavior/neurological

abnormal fear-related response ( J:149044 )

• impaired extinction of conditioned fear

• a stronger amount of freezing and run a shorter distance in comparison with wild-type following the three tone alone presentations on day 3

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
amyotrophic lateral sclerosis type 1		DOID:0060193	OMIM:105400	J:144199