Elp2^em3Bjw
Endonuclease-mediated Allele Detail

Summary

• Symbol: Elp2^em3Bjw
• Name: elongator acetyltransferase complex subunit 2; endonuclease-mediated mutation 3, Brandon J Wainwright
• MGI ID: MGI:6715581
• Synonyms: Elp2R464W
• Gene: Elp2 Location: Chr18:24737018-24771887 bp, + strand Genetic Position: Chr18, 13.18 cM
• Alliance: Elp2^em3Bjw page

Mutation origin

• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Nucleotide substitutions
• Mutation details: 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. (J:306113)

Disease models

Expression

In Structures Affected by this Mutation:

5 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Elp2 Mutation: 42 strains or lines available

References

• Original: J:306113 Kojic M, et al., Elp2 mutations perturb the epitranscriptome and lead to a complex neurodevelopmental phenotype. Nat Commun. 2021 May 11;12(1):2678
• All: 1 reference(s)