Allele/Variant

Elp2em3Bjw

Species
Mus musculus
Symbol
Elp2em3Bjw
Category
allele
Allele of gene
Elp2
Transgenic Constructs
None
Synonyms
  • Elp2R464W
Description
CRISPR/Cas9 technology generated an arginine to tryptophan substitution at amino acid 464 (R464W). This is a variant seen in individuals with features of developmental delay, intellectual disability and autism spectrum disorder.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

Phenotypes

Disease Associations