Eef1a2^em1Abb
Endonuclease-mediated Allele Detail

Summary

• Symbol: Eef1a2^em1Abb
• Name: eukaryotic translation elongation factor 1 alpha 2; endonuclease-mediated mutation 1, Catherine M Abbott
• MGI ID: MGI:7277681
• Synonyms: Eef1a2^-
• Gene: Eef1a2 Location: Chr2:180789446-180798807 bp, - strand Genetic Position: Chr2, 103.6 cM
• Alliance: Eef1a2^em1Abb page

Mutation origin

• Strain of Origin: C57BL/6JCrl

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: CRISPR/Cas9 technology generated a 22 bp deletion at the start of exon 3 resulting in a premature stop codon predicted to result in a nonsense-mediated decay. Homozygous mice express a 100-fold reduction in mRNA and Western blot analysis showed no detectable protein. (J:296080)

Expression

In Structures Affected by this Mutation:

3 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 Eef1a2 Mutation: 12 strains or lines available

References

• Original: J:296080 Davies FCJ, et al., Recapitulation of the EEF1A2 D252H neurodevelopmental disorder-causing missense mutation in mice reveals a toxic gain of function. Hum Mol Genet. 2020 Jun 27;29(10):1592-1606
• All: 2 reference(s)