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Allele : Elp2<em2Bjw> elongator acetyltransferase complex subunit 2; endonuclease-mediated mutation 2, Brandon J Wainwright

Primary Identifier  MGI:6715576 Allele Type  Endonuclease-mediated
Attribute String  Humanized sequence Gene  Elp2
Strain of Origin  C57BL/6 Is Recombinase  false
Is Wild Type  false
molecularNote  CRISPR/Cas9 technology generated an histidine to arginine substitution at amino acid 206 (H206R). This is a variant seen in individuals with features of developmental delay, intellectual disability and autism spectrum disorder.
  • mutations:
  • Nucleotide substitutions
  • synonyms:
  • Elp2H206R,
  • Elp2H206R
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

3 Publication categories

Trail: Allele