Allele/Variant

Eef1a2em#Abb

Species
Mus musculus
Symbol
Eef1a2em#Abb
Category
allele
Allele of gene
Eef1a2
Transgenic Constructs
None
Synonyms
  • D252H
Description
CRISPR/Cas9 technology generated a G to C change at position 754 resulting in a aspartate to histidine substitution at amino acid 252 (D252H). Two lines were established. This record represents pooled data from the two lines. No difference from wild-type mice in RNA levels is seen, however protein levels are approximately 60% that of wild-type mice in the brain and are approximately 1.6 times higher than in wild-type mice in muscle. This mutation appears to result in a gain of function.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

No data available

Phenotypes

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    Disease Associations

    Association
    Disease Qualifier
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