EEF1A2 eukaryotic translation elongation factor 1 alpha 2
Model Species
Mus musculusGene Aliases
EEF1AL, Eef1a, S1, STN, wasted, wstModels / Rescue Models
-Rescue Model
-Model Summary
CRISPR/Cas9 generated eEF1A2 biallelic mutant mice exhibit motor neuron degeneration, severe neurodevelopmental disorder, sudden death and audiogenic seizures. The presence of the human mutant eEF1A2 carrying the mutation G70S did not rescue neurodegeneration in eEF1A2-G70S heterozygous mutant mice, indicating that the mutant protein is non-functional (Davies FC, et al., Sci Rep., 2017).
External Links
Reports related to EEF1A2 (1 Reports)
| # | Type | Title | Author, Year |
|---|---|---|---|
| 1 | Primary | Biallelic mutations in the gene encoding eEF1A2 cause seizures and sudden death in F0 mice. | Davies FC , et al. (2017) |
Show all Construct Details
Show all Phenotypic Profiles
M_EEF1A2_1_KO_HM
Model Type: Genetic
Model Genotype: Homozygous
Mutation:
Mice with biallelic deletions (/) in EEF1A2. Guide RNA pairs were designed on mouse Eef1a2 around exon 3. gRNAs, Cas9n mRNA and Ultramer ssODN (single stranded oligonucleotide) repair template were injected into single cell C57BL/6 embryos. Sequencing confirmed a deletion close to the PAM site (protospacer adjacent motif). All null alleles resulted in premature stop codons and nonsense-mediated decay (mice with two such alleles are categorised as /).
Allele Type: Loss of function
Strain of Origin: C57BL/6
Genetic Background: C57BL/6
Es cell line: -
Model Source: 28378778
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Davies FC , et al. (2017) |
| Motor phenotype | Tremor | Increased | General observations | 2.4-5 weeks | Davies FC , et al. (2017) |
| Motor phenotype | Hunched posture | Increased | General observations | 2.4-5 weeks | Davies FC , et al. (2017) |
| Motor phenotype | Gait | Abnormal | General observations | 2.4-5 weeks | Davies FC , et al. (2017) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Neuronal degeneration | Decreased | NA | NA | Davies FC , et al. (2017) |
| Neurophysiology | NA | Not reported | NA | NA | Davies FC , et al. (2017) |
| Repetitive behavior | NA | Not reported | NA | NA | Davies FC , et al. (2017) |
| Seizure | Seizures | Increased | General observations | 2.6 weeks | Davies FC , et al. (2017) |
| Sensory | NA | Not reported | NA | NA | Davies FC , et al. (2017) |
| Social behavior | NA | Not reported | NA | NA | Davies FC , et al. (2017) |
| Physiological parameters | NA | Not reported | NA | NA | Davies FC , et al. (2017) |
| Communications | NA | Not reported | NA | NA | Davies FC , et al. (2017) |
| Developmental profile | Size/growth | Decreased | Body weight measurement | 2.4-5 weeks | Davies FC , et al. (2017) |
| Developmental profile | Myogenesis | Decreased | Histology | NA | Davies FC , et al. (2017) |
| Developmental profile | Mortality/lethality | Increased | General observations | 3 weeks | Davies FC , et al. (2017) |
| Emotion | NA | Not reported | NA | NA | Davies FC , et al. (2017) |
| Immune response | NA | Not reported | NA | NA | Davies FC , et al. (2017) |
| Learning & memory | NA | Not reported | NA | NA | Davies FC , et al. (2017) |
| Maternal behavior | NA | Not reported | NA | NA | Davies FC , et al. (2017) |
| Molecular profile | Targeted expression | Decreased | Western blot | Not reported | Davies FC , et al. (2017) |
| Molecular profile | Targeted expression | Decreased | Semi-quantitative pcr (qrt-pcr) | Not reported | Davies FC , et al. (2017) |
M_EEF1A2_2_KO_HT
Model Type: Genetic
Model Genotype: Heterozygous
Mutation:
Mice with monoallelic deletions (+/) in EEF1A2. Guide RNA pairs were designed on mouse Eef1a2 around exon 3. gRNAs 25 ng/microliter each, Cas9n mRNA at 50 ng/microliter and Ultramer ssODN repair template 150 ng/microliter were injected into single cell C57BL/6 embryos. Sequencing confirmed a deletion close to the PAM site (protospacer adjacent motif). All null alleles resulted in premature stop codons and nonsense-mediated decay (mice with one such alleles are categorised as +/).
Allele Type: Loss of function
Strain of Origin: C57BL/6
Genetic Background: C57BL/6
Es cell line: -
Model Source: 28378778
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Davies FC , et al. (2017) |
| Motor phenotype | NA | Not reported | NA | NA | Davies FC , et al. (2017) |
| Neuroanatomy / ultrastructure / cytoarchitecture | NA | Not reported | NA | NA | Davies FC , et al. (2017) |
| Neurophysiology | NA | Not reported | NA | NA | Davies FC , et al. (2017) |
| Repetitive behavior | NA | Not reported | NA | NA | Davies FC , et al. (2017) |
| Seizure | Seizures | No change | General observations | NA | Davies FC , et al. (2017) |
| Sensory | NA | Not reported | NA | NA | Davies FC , et al. (2017) |
| Social behavior | NA | Not reported | NA | NA | Davies FC , et al. (2017) |
| Physiological parameters | NA | Not reported | NA | NA | Davies FC , et al. (2017) |
| Communications | NA | Not reported | NA | NA | Davies FC , et al. (2017) |
| Developmental profile | Size/growth | No change | Body weight measurement | 2.4-5 weeks | Davies FC , et al. (2017) |
| Developmental profile | Mortality/lethality | Increased | General observations | 4 weeks | Davies FC , et al. (2017) |
| Emotion | NA | Not reported | NA | NA | Davies FC , et al. (2017) |
| Immune response | NA | Not reported | NA | NA | Davies FC , et al. (2017) |
| Learning & memory | NA | Not reported | NA | NA | Davies FC , et al. (2017) |
| Maternal behavior | NA | Not reported | NA | NA | Davies FC , et al. (2017) |
| Molecular profile | NA | Not reported | NA | NA | Davies FC , et al. (2017) |
M_EEF1A2_3_KI_HT_G70S
Model Type: Genetic
Model Genotype: Heterozygous
Mutation:
Mice with the G70S missense mutation in exon 3 were detected by the absence of the MnlI restriction site that was destroyed if the G70S mutation had been introduced. F0 founder mice were analyzed as no G70S/+ mice were obtained from which to establish breeding lines.
Allele Type: Loss of function
Strain of Origin: C57BL/6
Genetic Background: C57BL/6
Es cell line: -
Model Source: 28378778
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Davies FC , et al. (2017) |
| Motor phenotype | NA | Not reported | NA | NA | Davies FC , et al. (2017) |
| Neuroanatomy / ultrastructure / cytoarchitecture | NA | Not reported | NA | NA | Davies FC , et al. (2017) |
| Neurophysiology | NA | Not reported | NA | NA | Davies FC , et al. (2017) |
| Repetitive behavior | NA | Not reported | NA | NA | Davies FC , et al. (2017) |
| Seizure | NA | Not reported | NA | NA | Davies FC , et al. (2017) |
| Sensory | NA | Not reported | NA | NA | Davies FC , et al. (2017) |
| Social behavior | NA | Not reported | NA | NA | Davies FC , et al. (2017) |
| Physiological parameters | NA | Not reported | NA | NA | Davies FC , et al. (2017) |
| Communications | NA | Not reported | NA | NA | Davies FC , et al. (2017) |
| Developmental profile | Mortality/lethality | Increased | General observations | 4 weeks | Davies FC , et al. (2017) |
| Emotion | NA | Not reported | NA | NA | Davies FC , et al. (2017) |
| Immune response | NA | Not reported | NA | NA | Davies FC , et al. (2017) |
| Learning & memory | NA | Not reported | NA | NA | Davies FC , et al. (2017) |
| Maternal behavior | NA | Not reported | NA | NA | Davies FC , et al. (2017) |
| Molecular profile | NA | Not reported | NA | NA | Davies FC , et al. (2017) |
M_EEF1A2_4_KI_HM_G70S
Model Type: Genetic
Model Genotype: Homozygous
Mutation:
Mice with the biallelic G70S missense mutation in exon 3 were detected by the absence of the MnlI restriction site that was destroyed if the G70S mutation had been introduced. F0 founder mice were analyzed. There was no evidence of indels.
Allele Type: Loss of function
Strain of Origin: C57BL/6
Genetic Background: C57BL/6
Es cell line: -
Model Source: 28378778
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Davies FC , et al. (2017) |
| Motor phenotype | Tremor | Increased | General observations | 2.4-5 weeks | Davies FC , et al. (2017) |
| Motor phenotype | Hunched posture | Increased | General observations | 2.4-5 weeks | Davies FC , et al. (2017) |
| Motor phenotype | Gait | Abnormal | General observations | 2.4-5 weeks | Davies FC , et al. (2017) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Neuronal degeneration | Decreased | NA | Not reported | Davies FC , et al. (2017) |
| Neurophysiology | NA | Not reported | NA | NA | Davies FC , et al. (2017) |
| Repetitive behavior | NA | Not reported | NA | NA | Davies FC , et al. (2017) |
| Seizure | NA | Not reported | NA | NA | Davies FC , et al. (2017) |
| Sensory | NA | Not reported | NA | NA | Davies FC , et al. (2017) |
| Social behavior | NA | Not reported | NA | NA | Davies FC , et al. (2017) |
| Physiological parameters | NA | Not reported | NA | NA | Davies FC , et al. (2017) |
| Communications | NA | Not reported | NA | NA | Davies FC , et al. (2017) |
| Developmental profile | Myogenesis | Decreased | Histology | Not reported | Davies FC , et al. (2017) |
| Developmental profile | Mortality/lethality | Increased | General observations | 2.6 weeks | Davies FC , et al. (2017) |
| Emotion | NA | Not reported | NA | NA | Davies FC , et al. (2017) |
| Immune response | NA | Not reported | NA | NA | Davies FC , et al. (2017) |
| Learning & memory | NA | Not reported | NA | NA | Davies FC , et al. (2017) |
| Maternal behavior | NA | Not reported | NA | NA | Davies FC , et al. (2017) |
| Molecular profile | Targeted expression | Abnormal | Western blot | Not reported | Davies FC , et al. (2017) |
| Molecular profile | Targeted expression | Abnormal | Semi-quantitative pcr (qrt-pcr) | Not reported | Davies FC , et al. (2017) |
M_EEF1A2_5_KO_HT_DEL
Model Type: Genetic
Model Genotype: Compound heterozygous
Mutation:
Mice with an EEF1A2 allele with a 21 bp in-frame deletion (del/).
Allele Type: Loss of function
Strain of Origin: C57BL/6
Genetic Background: C57BL/6
Es cell line: -
Model Source: 28378778
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Davies FC , et al. (2017) |
| Motor phenotype | NA | Not reported | NA | NA | Davies FC , et al. (2017) |
| Neuroanatomy / ultrastructure / cytoarchitecture | NA | Not reported | NA | NA | Davies FC , et al. (2017) |
| Neurophysiology | NA | Not reported | NA | NA | Davies FC , et al. (2017) |
| Repetitive behavior | NA | Not reported | NA | NA | Davies FC , et al. (2017) |
| Seizure | Seizures | Increased | General observations | P18 | Davies FC , et al. (2017) |
| Sensory | NA | Not reported | NA | NA | Davies FC , et al. (2017) |
| Social behavior | NA | Not reported | NA | NA | Davies FC , et al. (2017) |
| Physiological parameters | NA | Not reported | NA | NA | Davies FC , et al. (2017) |
| Communications | NA | Not reported | NA | NA | Davies FC , et al. (2017) |
| Developmental profile | NA | Not reported | NA | NA | Davies FC , et al. (2017) |
| Emotion | NA | Not reported | NA | NA | Davies FC , et al. (2017) |
| Immune response | NA | Not reported | NA | NA | Davies FC , et al. (2017) |
| Learning & memory | NA | Not reported | NA | NA | Davies FC , et al. (2017) |
| Maternal behavior | NA | Not reported | NA | NA | Davies FC , et al. (2017) |
| Molecular profile | NA | Not reported | NA | NA | Davies FC , et al. (2017) |
M_EEF1A2_6_KO_HT_G70S
Model Type: Genetic
Model Genotype: Compound heterozygous
Mutation:
Compound heterozygous mice with a deletion on one allele and the G70S-causing mutation on the other allele (G70S/). The G70S mutation was incorporated by homology directed repair (HDR) and non-homologous end joining (NHEJ) resulted in a deletion on the other allele.
Allele Type: Loss of function
Strain of Origin: C57BL/6
Genetic Background: C57BL/6
Es cell line: -
Model Source: 28378778
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Davies FC , et al. (2017) |
| Motor phenotype | Tremor | Increased | General observations | 2.4-5 weeks | Davies FC , et al. (2017) |
| Motor phenotype | Hunched posture | Increased | General observations | 2.4-5 weeks | Davies FC , et al. (2017) |
| Motor phenotype | Gait | Abnormal | General observations | 2.4-5 weeks | Davies FC , et al. (2017) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Neuronal degeneration | Decreased | NA | Not reported | Davies FC , et al. (2017) |
| Neurophysiology | NA | Not reported | NA | NA | Davies FC , et al. (2017) |
| Repetitive behavior | NA | Not reported | NA | NA | Davies FC , et al. (2017) |
| Seizure | NA | Not reported | NA | NA | Davies FC , et al. (2017) |
| Sensory | NA | Not reported | NA | NA | Davies FC , et al. (2017) |
| Social behavior | NA | Not reported | NA | NA | Davies FC , et al. (2017) |
| Physiological parameters | NA | Not reported | NA | NA | Davies FC , et al. (2017) |
| Communications | NA | Not reported | NA | NA | Davies FC , et al. (2017) |
| Developmental profile | Size/growth | Decreased | Body weight measurement | 2.4-5 weeks | Davies FC , et al. (2017) |
| Developmental profile | Myogenesis | Decreased | Histology | Not reported | Davies FC , et al. (2017) |
| Developmental profile | Mortality/lethality | Increased | General observations | P18 | Davies FC , et al. (2017) |
| Emotion | NA | Not reported | NA | NA | Davies FC , et al. (2017) |
| Immune response | NA | Not reported | NA | NA | Davies FC , et al. (2017) |
| Learning & memory | NA | Not reported | NA | NA | Davies FC , et al. (2017) |
| Maternal behavior | NA | Not reported | NA | NA | Davies FC , et al. (2017) |
| Molecular profile | Targeted expression | Abnormal | Western blot | Not reported | Davies FC , et al. (2017) |
| Molecular profile | Targeted expression | Abnormal | Semi-quantitative pcr (qrt-pcr) | Not reported | Davies FC , et al. (2017) |
M_EEF1A2_7_MOSAIC
Model Type: Genetic
Model Genotype: Other
Mutation:
Mice with complex mutations in the EEF1A2 alleles. Of some that could be genotyped, one had two insertions of 50bp and 250bp in exon 3, four had evidence of G70S incorporation on at least one allele but subsequent analysis showed that the missense mutations were in cis with deletions and therefore not expressed. Most indels found were 140 bp deletions located close to the 5 PAM site on the intron/exon boundary that had not been mutated in the repair template because of the possibility of introducing splicing artefacts. The mosaicism may arise from continued Cas9-induced mutagenesis after zygotic cleavage.
Allele Type: Loss of function
Strain of Origin: C57BL/6
Genetic Background: C57BL/6
Es cell line: -
Model Source: 28378778
Phenotypic Profile
| Category | Entity | Value Change | Experimental Paradigm | Age at Testing | Author, Year |
|---|---|---|---|---|---|
| Circadian sleep/wake cycle | NA | Not reported | NA | NA | Davies FC , et al. (2017) |
| Motor phenotype | Tremor | Increased | General observations | 2.4-5 weeks | Davies FC , et al. (2017) |
| Motor phenotype | Hunched posture | Increased | General observations | 2.4-5 weeks | Davies FC , et al. (2017) |
| Motor phenotype | Gait | Abnormal | General observations | 2.4-5 weeks | Davies FC , et al. (2017) |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Neuronal degeneration | Decreased | NA | Not reported | Davies FC , et al. (2017) |
| Neurophysiology | NA | Not reported | NA | NA | Davies FC , et al. (2017) |
| Repetitive behavior | NA | Not reported | NA | NA | Davies FC , et al. (2017) |
| Seizure | Seizures | Increased | General observations | P18 | Davies FC , et al. (2017) |
| Sensory | NA | Not reported | NA | NA | Davies FC , et al. (2017) |
| Social behavior | NA | Not reported | NA | NA | Davies FC , et al. (2017) |
| Physiological parameters | NA | Not reported | NA | NA | Davies FC , et al. (2017) |
| Communications | NA | Not reported | NA | NA | Davies FC , et al. (2017) |
| Developmental profile | Size/growth | Decreased | Body weight measurement | 2.4-5 weeks | Davies FC , et al. (2017) |
| Developmental profile | Myogenesis | Decreased | Histology | Not reported | Davies FC , et al. (2017) |
| Developmental profile | Mortality/lethality | Increased | General observations | P18, p21 | Davies FC , et al. (2017) |
| Emotion | NA | Not reported | NA | NA | Davies FC , et al. (2017) |
| Immune response | NA | Not reported | NA | NA | Davies FC , et al. (2017) |
| Learning & memory | NA | Not reported | NA | NA | Davies FC , et al. (2017) |
| Maternal behavior | NA | Not reported | NA | NA | Davies FC , et al. (2017) |
| Molecular profile | Targeted expression | Abnormal | Western blot | Not reported | Davies FC , et al. (2017) |
CNVs associated with EEF1A2(1 Models)
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| 20q13.33 | 33 | Deletion-Duplication | 51 / 178 |