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Eef1a2em1Abb
Endonuclease-mediated Allele Detail
Summary
Symbol: Eef1a2em1Abb
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: Eef1a2em1Abb page
Mutation
origin
Strain of Origin:  C57BL/6JCrl
Mutation
description
Allele Type:    Endonuclease-mediated (Null/knockout)
Mutation:    Intragenic deletion
 
Mutation detailsCRISPR/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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory