Phenotypes Associated with This Genotype

Genotype
MGI:3823277

• Allelic Composition: Eef1a2^wst/Eef1a2^wst
• Genetic Background: involves: HRS/J

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

muscle

abnormal muscle morphology ( J:104855 )

• by 20 days of age there is a decline in muscle mass and by 27 days of age the ratio of muscle to body weight is 1.49 compared with 4.44 in heterozygotes

nervous system

gliosis ( J:104855 )

• although there is no evidence even at 29 days of age of microgliosis by CD45 staining, strong foci of GFAP staining in the anterior horn shows cervical, and to a lesser degree thoracic and lumbar, gliosis as early as 19 days of age

abnormal innervation pattern to muscle ( J:104855 )

• there is a rostrocaudal progressive retraction of motor nerve terminals

abnormal motor neuron morphology ( J:104855 )

• in addition to vacuolation, an abnormal accumulation of phosphorylated neurofilaments is found in the motor neurons of the anterior horn of the cervical spinal cord

motor neuron degeneration ( J:104855 )

abnormal neuromuscular synapse morphology ( J:104855 )

• as early as 17 days of age a small population of motor endplates is found to have no overlying motor nerve terminal, and this progresses such that by 27 days of age approximately 42% of endplates have no overlying motor nerve terminal

abnormal spinal cord ventral horn morphology ( J:104855 )

• at 28 days of age, but not 24 days of age, vacuolation is found in the anterior horn cells, but not at the lumbar level of the spinal cord

abnormal endplate potential ( J:104855 )

• at 23 days of age 20% of neuromuscular junctions in transverse abdominus muscles show weak synaptic transmission with random failures

• evoked endplate potentials in flexor digitorum brevis muscles do not show weak synaptic transmission until 25 days of age so there is progressive rostrocaudal deterioration in synaptic transmission

decreased neurotransmitter release ( J:104855 )

• diminished spontaneous miniature endplate potentials in transversus abdominus muscles at 25 days of age

abnormal neurotransmitter uptake ( J:104855 )

• FM1-43 and TRITC alpha bungarotoxin staining shows diminished uptake in a majority of endplates of transversus abdominus muscles from 25 day old homozygotes

behavior/neurological

impaired coordination ( J:104855 )

• from 21 days of age on homozygotes are progressively less able to stay on a rotarod for as long as normal littermate controls

cellular

gliosis ( J:104855 )

• although there is no evidence even at 29 days of age of microgliosis by CD45 staining, strong foci of GFAP staining in the anterior horn shows cervical, and to a lesser degree thoracic and lumbar, gliosis as early as 19 days of age