Mouse Genome Informatics
hm
    Als2tm1Jei/Als2tm1Jei
involves: 129P2/OlaHsd * C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
nervous system
• between 7 and 18 months of age, there is a progressive enhancement of inflammation in the brain and spinal cord
• at 18 months of age, there is a 30.9% reduction in Purkinje cell soma size compared to wild-type
• at 18 months of age, a 22.9% reduction in Purkinje cell number is detected compared to wild-type
• between 7 and 18 months of age, there is a progressive enhancement of astrocytosis in the brain and spinal cord
• 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
• at 18 months, the number of motor axons in the L4 ventral spinal cord is significantly reduced
• 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
• at 12 months, single motor unit potential amplitude is significantly larger in homozygous mice

behavior/neurological
N
• no signs of motor abnormalities are seen in mice up to 21 months of age (J:104446)

muscle
• the thoracic muscle shows regions of dense pyknotic nuclear clumping
• the thoracic muscle shows isolated angular atrophic muscle fibers
• the thoracic muscle shows central nuclei
• at 20 months of age in the gastrocnemius muscle, the pattern of fiber distribution is severly abnormal

immune system
• 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
OMIM IDRef(s)
NOT Amyotrophic Lateral Sclerosis 2, Juvenile; ALS2 205100 J:104446