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Allele : Eef1a2<em#Abb> eukaryotic translation elongation factor 1 alpha 2; endonuclease-mediated mutation, Catherine M Abbott

Primary Identifier  MGI:7277680 Allele Type  Endonuclease-mediated
Attribute String  Humanized sequence Gene  Eef1a2
Strain of Origin  C57BL/6JCrl Is Recombinase  false
Is Wild Type  false
molecularNote  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.
  • mutations:
  • Single point mutation
  • synonyms:
  • D252H,
  • D252H
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

0 Driven By

3 Publication categories