Eif4g1^em1Bjbl
Endonuclease-mediated Allele Detail

Summary

• Symbol: Eif4g1^em1Bjbl
• Name: eukaryotic translation initiation factor 4, gamma 1; endonuclease-mediated mutation 1, Benjamin J Blencowe
• MGI ID: MGI:6696153
• Synonyms: Eif4g1^deltaMIC
• Gene: Eif4g1 Location: Chr16:20491457-20511633 bp, + strand Genetic Position: Chr16, 12.49 cM
• Alliance: Eif4g1^em1Bjbl page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Modified isoform(s))
• Mutation: Intragenic deletion
• Mutation details: CRISPR/Cas9 technology was used to delete the neuronal microexon. A subset of autistic patients show disrupted splicing of this microexon. (J:287743)

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 Eif4g1 Mutation: 62 strains or lines available

References

• Original: J:287743 Gonatopoulos-Pournatzis T, et al., Autism-Misregulated eIF4G Microexons Control Synaptic Translation and Higher Order Cognitive Functions. Mol Cell. 2020 Mar 19;77(6):1176-1192.e16
• All: 1 reference(s)