Phenotypes Associated with This Genotype

Genotype
MGI:7277686

• Allelic Composition: Eef1a2^em#Abb/Eef1a2^em#Abb
• Genetic Background: C57BL/6JCrl-Eef1a2^em#Abb

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

mortality/aging

premature death ( J:296080 )

• mice die before they are old enough to be tested on the rotarod

growth/size/body

decreased body weight ( J:296080 )

• weight gain between P14 and P22 is attenuated

• males weigh less than Eef1a2^em1Abb homozygous males at 15 days of age, and fail to gain weight thereafter

behavior/neurological

abnormal behavior ( J:296080 )

• mice show worse neuroscores (consisting of the severity of impairment on ledge walking, hindlimb clasping, gait and kyphosis) than wild-type mice or null Eef1a2^em1Abb mice and this neurological dysfunction worsens progressively from 16-23 days

nervous system

gliosis ( J:296080 )

• increase in GFAP expression in spinal cord indicating gliosis

abnormal spinal cord morphology ( J:296080 )

• spinal cord shows abnormal pathology, including loss of normal nuclear structure with apparent loss of nuclear membrane leading to neuronal death in anterior horn motor neurons

neurodegeneration ( J:296080 )

• spinal cord shows neuronal death in anterior horn motor neurons