Phenotypes associated with this allele

• Allele Symbol: Eef1a2^em1Abb
• Allele Name: endonuclease-mediated mutation 1, Catherine M Abbott
• Allele ID: MGI:7277681
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Eef1a2^em1Abb/Eef1a2^em1Abb	C57BL/6JCrl-Eef1a2^em1Abb	MGI:7277688

Genotype
MGI:7277688

hm1

• Allelic Composition: Eef1a2^em1Abb/Eef1a2^em1Abb
• Genetic Background: C57BL/6JCrl-Eef1a2^em1Abb

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

mortality/aging

premature death ( J:296080 )

• mice show a high number of sudden deaths and spontaneous fatal seizures around 22 days of age

growth/size/body

decreased body weight ( J:296080 )

• weight gain between P14 and P22 is attenuated

behavior/neurological

sporadic seizures ( J:296080 )

• mice show spontaneous fatal seizures around 22 days of age

nervous system

sporadic seizures ( J:296080 )

• mice show spontaneous fatal seizures around 22 days of age

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

cellular

gliosis ( J:296080 )

• increase in GFAP expression in spinal cord indicating gliosis