Phenotypes associated with this allele

• Allele Symbol: Als2^tm1Jei
• Allele Name: targeted mutation 1, Joh-E Ikeda
• Allele ID: MGI:3612978
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Als2^tm1Jei/Als2^tm1Jei	involves: 129P2/OlaHsd * C57BL/6J	MGI:3616467

Genotype
MGI:3616467

hm1

• Allelic Composition: Als2^tm1Jei/Als2^tm1Jei
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

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

nervous system

CNS inflammation ( J:104446 )

• between 7 and 18 months of age, there is a progressive enhancement of inflammation in the brain and spinal cord

abnormal Purkinje cell morphology ( J:104446 )

• at 18 months of age, there is a 30.9% reduction in Purkinje cell soma size compared to wild-type

decreased Purkinje cell number ( J:104446 )

• at 18 months of age, a 22.9% reduction in Purkinje cell number is detected compared to wild-type

astrocytosis ( J:104446 )

• between 7 and 18 months of age, there is a progressive enhancement of astrocytosis in the brain and spinal cord

abnormal motor neuron innervation pattern ( J:104446 )

• at 12 months, the number of viable axons (motor units) is significantly reduced in the hindlimb

• decrease in axon numbers and concurrent decrease in single motor units suggests cycles of motorneuron degeneration followed by reinnervation

decreased motor neuron number ( J:104446 )

• at 18 months, the number of motor axons in the L4 ventral spinal cord is significantly reduced

abnormal neuromuscular synapse morphology ( J:104446 )

• at 12 and 20 months, there are fewer neuromuscular junctions detected in the gastrocnemious muscle

• at 20 months, postsynaptic folding in the neuromuscular junction is less complex, smaller, and more globular in conformation with respect to the wild-type

abnormal action potential ( J:104446 )

• at 12 months, single motor unit potential amplitude is significantly larger in homozygous mice

behavior/neurological

behavior/neurological phenotype ( J:104446 )

N • no signs of motor abnormalities are seen in mice up to 21 months of age

muscle

abnormal skeletal muscle fiber morphology ( J:104446 )

• the thoracic muscle shows regions of dense pyknotic nuclear clumping

skeletal muscle fiber atrophy ( J:104446 )

• the thoracic muscle shows isolated angular atrophic muscle fibers

centrally nucleated skeletal muscle fibers ( J:104446 )

• the thoracic muscle shows central nuclei

abnormal skeletal muscle fiber type ratio ( J:104446 )

• at 20 months of age in the gastrocnemius muscle, the pattern of fiber distribution is severly abnormal

immune system

CNS inflammation ( J:104446 )

• between 7 and 18 months of age, there is a progressive enhancement of inflammation in the brain and spinal cord

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
NOT	amyotrophic lateral sclerosis type 2	DOID:0060194	OMIM:205100	J:104446