Elp6^em1Bjw
Endonuclease-mediated Allele Detail

Summary

• Symbol: Elp6^em1Bjw
• Name: elongator acetyltransferase complex subunit 6; endonuclease-mediated mutation 1, Brandon J Wainwright
• MGI ID: MGI:8275247
• Synonyms: Elp6L118W
• Gene: Elp6 Location: Chr9:110134241-110151170 bp, + strand Genetic Position: Chr9, 59.91 cM
• Alliance: Elp6^em1Bjw page

Mutation origin

• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Nucleotide substitutions
• Mutation details: Leucine codon 118 (CTG) was changed to tryptophan (TGG) (p.L118W) using sgRNAs and an ssODN template with CRISPR/Cas9 technology. The mutation is the equivalent of the same human mutation found in patients presenting with a global developmental delay, intellectual disability, epilepsy, motor dysfunction and dysmorphic features. (J:360936)

Expression

In Structures Affected by this Mutation:

1 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 Elp6 Mutation: 31 strains or lines available

References

• Original: J:360936 Gaik M, et al., Functional divergence of the two Elongator subcomplexes during neurodevelopment. EMBO Mol Med. 2022 Jul 7;14(7):e15608
• All: 1 reference(s)