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Relevance to Autism

Heterozygous variants in the EEF1A2 gene are associated with a form of early infantile epileptic encephalopathy (EIEE33; OMIM 616409) and a form of autosomal dominant intellectual disability (MRD38; OMIM 616393), a less severe disorder with overlapping features. De Ligt et al., 2012 and Nakajima et al., 2014 identifed de novo missense variants in the EEF1A2 gene in three unrelated patients presenting with intellectual disability, epilepsy, and autistic features. Additional de novo missense variants in this gene were identified in patients presenting with intellectual disability and epilepsy in Lam et al., 2016. A novel de novo missense variant in this gene was identified in an ASD proband from the Simons Simplex Collection in Iossifov et al., 2014; however, this variant was reportedly predicted to be benign in Sanders et al., 2015.

Molecular Function

This protein promotes the GTP-dependent binding of aminoacyl-tRNA to the A-site of ribosomes during protein biosynthesis.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
De novo EEF1A2 mutations in patients with characteristic facial features, intellectual disability, autistic behaviors and epilepsy.
ID, epilepsy
Autistic features
Support
The diagnostic yield of intellectual disability: combined whole genome low-coverage sequencing and medical exome sequencing
ID
Support
Integrating de novo and inherited variants in 42
ASD
Support
The contribution of de novo coding mutations to autism spectrum disorder
ASD
Support
DD, epilepsy/seizures
Support
Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy
DD, ID, epilepsy/seizures
Stereotypy, autistic features
Support
Comprehensive genome sequencing analyses identify novel gene mutations and copy number variations associated with infant developmental delay or intellectual disability (DD/ID)
DD, ID
Support
Exome sequencing reveals new causal mutations in children with epileptic encephalopathies.
Epilepsy
Support
DD, ID, epilepsy/seizures
ASD, ADHD
Support
Whole exome sequencing reveals a de novo missense variant in EEF1A2 in a Rett syndrome-like patient.
Atypical Rett syndrome
Stereotypy
Support
High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population
DD, ID, epilepsy/seizures
Support
Diagnostic exome sequencing in persons with severe intellectual disability.
ID, epilepsy
Autistic features
Support
Epilepsy/seizures
DD
Support
Variantrecurrence in neurodevelopmental disorders: the use of publicly available genomic data identifies clinically relevant pathogenic missense v...
DD
Support
Genome sequencing of 320 Chinese children with epilepsy: a clinical and molecular study
DD, epilepsy/seizures
Support
Epilepsy/seizures
ASD
Support
Mutations in elongation factor EF-1 alpha affect the frequency of frameshifting and amino acid misincorporation in Saccharomyces cerevisiae.
Support
Genetic and phenotypic analysis of 101 patients with developmental delay or intellectual disability using whole-exome sequencing
DD, epilepsy/seizures
Support
ASD
Support
Novel de novo EEF1A2 missense mutations causing epilepsy and intellectual disability.
ID, epilepsy/seizures
Support
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
ASD, DD
Support
Epilepsy/seizures
ASD
Support
Large-scale discovery of novel genetic causes of developmental disorders.
Unknown diagnosis

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN608R001 
 missense_variant 
 c.754G>C 
 p.Asp252His 
 De novo 
  
 Simplex 
 GEN608R002 
 missense_variant 
 c.364G>A 
 p.Glu122Lys 
 De novo 
  
 Simplex 
 GEN608R003 
 missense_variant 
 c.208G>A 
 p.Gly70Ser 
 De novo 
  
 Simplex 
 GEN608R004 
 missense_variant 
 c.271G>A 
 p.Asp91Asn 
 De novo 
  
 Unknown 
 GEN608R005 
 missense_variant 
 c.1145G>A 
 p.Arg382His 
 De novo 
  
 Simplex 
 GEN608R006 
 missense_variant 
 c.208G>A 
 p.Gly70Ser 
 De novo 
  
  
 GEN608R007 
 missense_variant 
 c.211A>C 
 p.Ile71Leu 
 De novo 
  
  
 GEN608R008 
 missense_variant 
 c.271G>A 
 p.Asp91Asn 
 De novo 
  
  
 GEN608R009 
 missense_variant 
 c.292T>C 
 p.Phe98Leu 
 De novo 
  
  
 GEN608R010 
 missense_variant 
 c.364G>A 
 p.Glu122Lys 
 De novo 
  
  
 GEN608R011 
 missense_variant 
 c.370G>A 
 p.Glu124Lys 
 De novo 
  
  
 GEN608R012 
 missense_variant 
 c.1267C>T 
 p.Arg423Cys 
 De novo 
  
  
 GEN608R013 
 missense_variant 
 c.370G>A 
 p.Glu124Lys 
 De novo 
  
  
 GEN608R014 
 missense_variant 
 c.271G>A 
 p.Asp91Asn 
 De novo 
  
  
 GEN608R015 
 missense_variant 
 c.49G>C 
 p.Asp17His 
 De novo 
  
  
 GEN608R016 
 missense_variant 
 c.208G>A 
 p.Gly70Ser 
 De novo 
  
  
 GEN608R017 
 missense_variant 
 c.208G>A 
 p.Gly70Ser 
 De novo 
  
  
 GEN608R018 
 missense_variant 
 c.271G>A 
 p.Asp91Asn 
 De novo 
  
  
 GEN608R019 
 missense_variant 
 c.293T>G 
 p.Phe98Cys 
 De novo 
  
  
 GEN608R020 
 missense_variant 
 c.364G>A 
 p.Glu122Lys 
 Unknown 
 Not paternal 
  
 GEN608R021 
 missense_variant 
 c.364G>A 
 p.Glu122Lys 
 De novo 
  
  
 GEN608R022 
 missense_variant 
 c.364G>A 
 p.Glu122Lys 
 De novo 
  
  
 GEN608R023 
 missense_variant 
 c.374C>A 
 p.Ala125Glu 
 De novo 
  
  
 GEN608R024 
 missense_variant 
 c.796C>T 
 p.Arg266Trp 
 De novo 
  
  
 GEN608R025 
 missense_variant 
 c.796C>T 
 p.Arg266Trp 
 De novo 
  
  
 GEN608R026 
 missense_variant 
 c.796C>T 
 p.Arg266Trp 
 De novo 
  
  
 GEN608R027 
 missense_variant 
 c.1150G>C 
 p.Gly384Arg 
 De novo 
  
  
 GEN608R028 
 missense_variant 
 c.1295C>T 
 p.Thr432Met 
 Familial 
 Maternal 
  
 GEN608R029 
 missense_variant 
 c.796C>T 
 p.Arg266Trp 
 De novo 
  
  
 GEN608R030 
 missense_variant 
 c.1314C>G 
 p.Ile438Met 
 De novo 
  
  
 GEN608R031 
 missense_variant 
 c.913G>A 
 p.Gly305Ser 
 Unknown 
  
  
 GEN608R032 
 missense_variant 
 c.370G>A 
 p.Glu124Lys 
 Unknown 
  
  
 GEN608R033 
 missense_variant 
 c.208G>A 
 p.Gly70Ser 
 Unknown 
  
  
 GEN608R034 
 missense_variant 
 c.271G>A 
 p.Asp91Asn 
 De novo 
  
 Simplex 
 GEN608R035 
 missense_variant 
 c.364G>A 
 p.Glu122Lys 
 Unknown 
  
  
 GEN608R036 
 missense_variant 
 c.26A>C 
 p.Asn9Thr 
 De novo 
  
 Simplex 
 GEN608R037 
 missense_variant 
 c.364G>A 
 p.Glu122Lys 
 De novo 
  
 Simplex 
 GEN608R038 
 synonymous_variant 
 c.435G>A 
 p.Val145%3D 
 De novo 
  
 Multiplex 
 GEN608R039 
 missense_variant 
 c.364G>A 
 p.Glu122Lys 
 De novo 
  
 Simplex 
 GEN608R040 
 synonymous_variant 
 c.363C>T 
 p.Gly121%3D 
 De novo 
  
  
 GEN608R041 
 missense_variant 
 c.479C>T 
 p.Pro160Leu 
 Unknown 
  
  
  et al.  
 GEN608R042 
 missense_variant 
 c.71C>T 
 p.Thr24Met 
 De novo 
  
  
  et al.  
 GEN608R043 
 missense_variant 
 c.71C>T 
 p.Thr24Met 
 De novo 
  
  
  et al.  
 GEN608R044 
 missense_variant 
 c.208G>A 
 p.Gly70Ser 
 De novo 
  
  
  et al.  
 GEN608R045 
 missense_variant 
 c.208G>A 
 p.Gly70Ser 
 De novo 
  
  
  et al.  
 GEN608R046 
 missense_variant 
 c.271G>A 
 p.Asp91Asn 
 De novo 
  
  
  et al.  
 GEN608R047 
 missense_variant 
 c.286C>T 
 p.Arg96Cys 
 Familial 
 Paternal 
  
  et al.  
 GEN608R048 
 missense_variant 
 c.287G>A 
 p.Arg96His 
 De novo 
  
  
  et al.  
 GEN608R049 
 missense_variant 
 c.289G>A 
 p.Asp97Asn 
 De novo 
  
  
  et al.  
 GEN608R050 
 missense_variant 
 c.289G>A 
 p.Asp97Asn 
 De novo 
  
  
  et al.  
 GEN608R051 
 missense_variant 
 c.311C>G 
 p.Thr104Arg 
 De novo 
  
  
  et al.  
 GEN608R052 
 missense_variant 
 c.364G>A 
 p.Glu122Lys 
 De novo 
  
  
  et al.  
 GEN608R053 
 missense_variant 
 c.364G>A 
 p.Glu122Lys 
 De novo 
  
  
  et al.  
 GEN608R054 
 missense_variant 
 c.364G>A 
 p.Glu122Lys 
 De novo 
  
  
  et al.  
 GEN608R055 
 missense_variant 
 c.370G>A 
 p.Glu124Lys 
 De novo 
  
  
  et al.  
 GEN608R056 
 missense_variant 
 c.370G>A 
 p.Glu124Lys 
 De novo 
  
  
  et al.  
 GEN608R057 
 missense_variant 
 c.370G>A 
 p.Glu124Lys 
 De novo 
  
  
  et al.  
 GEN608R058 
 missense_variant 
 c.754G>C 
 p.Asp252His 
 De novo 
  
  
  et al.  
 GEN608R059 
 missense_variant 
 c.889G>A 
 p.Glu297Lys 
 De novo 
  
  
  et al.  
 GEN608R060 
 missense_variant 
 c.1066G>A 
 p.Gly356Ser 
 Familial 
 Maternal 
  
  et al.  
 GEN608R061 
 missense_variant 
 c.1084G>A 
 p.Asp362Asn 
 De novo 
  
  
  et al.  
 GEN608R062 
 missense_variant 
 c.1141C>T 
 p.Arg381Trp 
 De novo 
  
  
  et al.  
 GEN608R063 
 missense_variant 
 c.1259C>T 
 p.Pro420Leu 
 De novo 
  
  
  et al.  
 GEN608R064 
 missense_variant 
 c.1295C>T 
 p.Thr432Met 
 De novo 
  
  
  et al.  
 GEN608R065 
 missense_variant 
 c.1295C>T 
 p.Thr432Met 
 De novo 
  
  
  et al.  
 GEN608R066 
 missense_variant 
 c.1309G>T 
 p.Val437Phe 
 De novo 
  
  
  et al.  
 GEN608R067 
 missense_variant 
 c.364G>A 
 p.Glu122Lys 
 De novo 
  
 Simplex 
  et al.  
 GEN608R068 
 missense_variant 
 c.610C>T 
 p.Pro204Ser 
 Unknown 
  
  
  et al.  

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
20
Duplication
 1
 
20
Duplication
 1
 
20
Duplication
 1
 
20
Deletion-Duplication
 33
 

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).

References

Type
Title
Author, Year
Primary
Biallelic mutations in the gene encoding eEF1A2 cause seizures and sudden death in F0 mice.

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:
Mutant ES Cell Line: C57BL/6
Model Source: 28378778

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:
Mutant ES Cell Line: C57BL/6
Model Source: 28378778

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:
Mutant ES Cell Line: C57BL/6
Model Source: 28378778

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:
Mutant ES Cell Line: C57BL/6
Model Source: 28378778

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:
Mutant ES Cell Line: C57BL/6
Model Source: 28378778

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:
Mutant ES Cell Line: C57BL/6
Model Source: 28378778

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:
Mutant ES Cell Line: C57BL/6
Model Source: 28378778

M_EEF1A2_1_KO_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Tremor1
Increased
Description: Mutants show increased tremor compared to controls.
Exp Paradigm: NA
 General observations
 2.4-5 weeks
Hunched posture1
Increased
Description: Mutants show a hunched posture compared to controls.
Exp Paradigm: NA
 General observations
 2.4-5 weeks
Gait1
Abnormal
Description: Mutants show an abnormal gait compared to controls.
Exp Paradigm: NA
 General observations
 2.4-5 weeks
Neuronal degeneration1
Decreased
Description: Mutants show a neurodegenerative phenotype, particularly motor neuron degeneration, compared to controls. nuclear enlargement and cytoplasmic degeneration were noted in mutant spinal motor neurons.
Exp Paradigm: NA
 NA
 NA
Seizures1
Increased
Description: Mutants show increased frequency of fatal tonic clonic seizures preceded by the wild running, compared to controls.
Exp Paradigm: Audiogenic seizures were observed: seizures in response to transient environmental noise.
 General observations
 2.6 weeks
Myogenesis1
Decreased
Description: Mutants show muscle wasting compared to controls.
Exp Paradigm: NA
 Histology
 NA
Mortality/lethality1
Increased
Description: Mutants show a sudden death phenotype compared to controls. mutants die latest by 28 days after birth. sudden deaths were a result of audiogenic seizures.
Exp Paradigm: NA
 General observations
 3 weeks
Size/growth1
Decreased
Description: Mutants show decreased body weight compared to controls, after weaning.
Exp Paradigm: NA
 Body weight measurement
 2.4-5 weeks
Targeted expression1
Decreased
Description: Mutants show decreased expression of eef1a2 compared to controls. mutants show the absence of bands at 73 bp and 39 bp in mnli restriction digests of rt-pcr products suggesting that no wild-type allele is being expressed.
Exp Paradigm: Western blot
 Western blot
 Not reported
Targeted expression1
Decreased
Description: Mutants show decreased expression of eef1a2 compared to controls. mutants show the absence of bands at 73 bp and 39 bp in mnli restriction digests of rt-pcr products suggesting that no wild-type allele is being expressed.
Exp Paradigm: Semi-quantitative pcr (qrt-pcr)
 Semi-quantitative pcr (qrt-pcr)
 Not reported
 Not Reported: Circadian sleep/wake cycle, Communications, Emotion, Immune response, Learning & memory, Maternal behavior, Neurophysiology, Physiological parameters, Repetitive behavior, Sensory, Social behavior

M_EEF1A2_2_KO_HT

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Mortality/lethality1
Increased
Description: Mutants showed increased mortality with only 4 surviving to adulthood compared to controls.
Exp Paradigm: NA
 General observations
 4 weeks
Size/growth1
 No change
 Body weight measurement
 2.4-5 weeks
Seizures1
 No change
 General observations
 NA
 Not Reported: Circadian sleep/wake cycle, Communications, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Sensory, Social behavior

M_EEF1A2_3_KI_HT_G70S

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Mortality/lethality1
Increased
Description: Mutants did not survive past 4 weeks.
Exp Paradigm: NA
 General observations
 4 weeks
 Not Reported: Circadian sleep/wake cycle, Communications, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

M_EEF1A2_4_KI_HM_G70S

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Gait1
Abnormal
Description: Mutants show an abnormal gait compared to controls.
Exp Paradigm: NA
 General observations
 2.4-5 weeks
Tremor1
Increased
Description: Mutants show increased tremor compared to controls.
Exp Paradigm: NA
 General observations
 2.4-5 weeks
Hunched posture1
Increased
Description: Mutants show a hunched posture compared to controls.
Exp Paradigm: NA
 General observations
 2.4-5 weeks
Neuronal degeneration1
Decreased
Description: Mutants show a neurodegenerative phenotype, particularly motor neuron degeneration, compared to controls. mutants exhibit a more severe phenotype than mice null for eef1a2.
Exp Paradigm: NA
 NA
 Not reported
Myogenesis1
Decreased
Description: Mutants show muscle wasting compared to controls.
Exp Paradigm: NA
 Histology
 Not reported
Mortality/lethality1
Increased
Description: Mutants show a sudden death phenotype compared to controls. mutants die latest by 28 days after birth.
Exp Paradigm: NA
 General observations
 2.6 weeks
Targeted expression1
Abnormal
Description: Mutants show no change in expression of eef1a2 compared to controls. mutants show the absence of bands at 73 bp and 39 bp in mnli restriction digests of rt-pcr products suggesting that no wild-type allele is being expressed.
Exp Paradigm: Western blot
 Western blot
 Not reported
Targeted expression1
Abnormal
Description: Mutants show no change in expression of eef1a2 compared to controls. mutants show the absence of bands at 73 bp and 39 bp in mnli restriction digests of rt-pcr products suggesting that no wild-type allele is being expressed.
Exp Paradigm: Semi-quantitative pcr (qrt-pcr)
 Semi-quantitative pcr (qrt-pcr)
 Not reported
 Not Reported: Circadian sleep/wake cycle, Communications, Emotion, Immune response, Learning & memory, Maternal behavior, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

M_EEF1A2_5_KO_HT_DEL

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Seizures1
Increased
Description: Mutants show increased frequency of seizures compared to controls.
Exp Paradigm: Audiogenic seizures were observed: seizures in response to transient environmental noise.
 General observations
 P18
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Sensory, Social behavior

M_EEF1A2_6_KO_HT_G70S

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Tremor1
Increased
Description: Mutants show increased tremor compared to controls.
Exp Paradigm: NA
 General observations
 2.4-5 weeks
Hunched posture1
Increased
Description: Mutants show a hunched posture compared to controls.
Exp Paradigm: NA
 General observations
 2.4-5 weeks
Gait1
Abnormal
Description: Mutants show an abnormal gait compared to controls.
Exp Paradigm: NA
 General observations
 2.4-5 weeks
Neuronal degeneration1
Decreased
Description: Mutants show a neurodegenerative phenotype, particularly motor neuron degeneration, compared to controls. nuclear enlargement and cytoplasmic degeneration were noted in mutant spinal motor neurons.
Exp Paradigm: NA
 NA
 Not reported
Myogenesis1
Decreased
Description: Mutants show muscle wasting compared to controls.
Exp Paradigm: NA
 Histology
 Not reported
Mortality/lethality1
Increased
Description: Mutants show a sudden death phenotype compared to controls. mutants exhibit a more severe wasted phenotype than mice null for eef1a2.
Exp Paradigm: NA
 General observations
 P18
Size/growth1
Decreased
Description: Mutants show decreased body weight compared to controls. mutants are smaller compared to homozygous null mutants of eef1a2.
Exp Paradigm: NA
 Body weight measurement
 2.4-5 weeks
Targeted expression1
Abnormal
Description: Mutants show no change in expression of eef1a2 compared to controls. mutants show the absence of bands at 73 bp and 39 bp in mnli restriction digests of rt-pcr products suggesting that no wild-type allele is being expressed.
Exp Paradigm: Western blot
 Western blot
 Not reported
Targeted expression1
Abnormal
Description: Mutants show no change in expression of eef1a2 compared to controls. mutants show the absence of bands at 73 bp and 39 bp in mnli restriction digests of rt-pcr products suggesting that no wild-type allele is being expressed.
Exp Paradigm: Semi-quantitative pcr (qrt-pcr)
 Semi-quantitative pcr (qrt-pcr)
 Not reported
 Not Reported: Circadian sleep/wake cycle, Communications, Emotion, Immune response, Learning & memory, Maternal behavior, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

M_EEF1A2_7_MOSAIC

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Gait1
Abnormal
Description: Mutants show an abnormal gait compared to controls.
Exp Paradigm: NA
 General observations
 2.4-5 weeks
Tremor1
Increased
Description: Mutants show increased tremor compared to controls.
Exp Paradigm: NA
 General observations
 2.4-5 weeks
Hunched posture1
Increased
Description: Mutants show a hunched posture compared to controls.
Exp Paradigm: NA
 General observations
 2.4-5 weeks
Neuronal degeneration1
Decreased
Description: Mutants show a neurodegenerative phenotype, particularly motor neuron degeneration, compared to controls.
Exp Paradigm: NA
 NA
 Not reported
Seizures1
Increased
Description: Mutants show increased frequency of seizures compared to controls.
Exp Paradigm: Audiogenic seizures were observed: seizures in response to transient environmental noise.
 General observations
 P18
Myogenesis1
Decreased
Description: Mutants show muscle wasting compared to controls.
Exp Paradigm: NA
 Histology
 Not reported
Mortality/lethality1
Increased
Description: Mutants show a sudden death phenotype compared to controls. mutants died due to audiogenic seizure. three mosaic mutant mice survived to 29, 32 and 35 days.
Exp Paradigm: NA
 General observations
 P18, p21
Size/growth1
Decreased
Description: Mutants show decreased body weight compared to controls.
Exp Paradigm: NA
 Body weight measurement
 2.4-5 weeks
Targeted expression1
Abnormal
Description: Mutants show detectable or decreased expression of eef1a2 compared to controls.
Exp Paradigm: NA
 Western blot
 Not reported
 Not Reported: Circadian sleep/wake cycle, Communications, Emotion, Immune response, Learning & memory, Maternal behavior, Neurophysiology, Physiological parameters, Repetitive behavior, Sensory, Social behavior

 

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