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Eef1a2wst
Spontaneous Allele Detail
Summary
Symbol: Eef1a2wst
Name: eukaryotic translation elongation factor 1 alpha 2; wasted
MGI ID: MGI:1857093
Synonyms: wst
Gene: Eef1a2  Location: Chr2:180789446-180798807 bp, - strand  Genetic Position: Chr2, 103.6 cM
Alliance: Eef1a2wst page
Mutation
origin
Strain of Origin:  HRS/J
Mutation
description
Allele Type:    Spontaneous
Mutation:    Intragenic deletion
 
Mutation detailsThe mutation is a 15.8kb deletion that removes the promoter region and first noncoding exon of the gene. (J:47466)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 7 anatomical structure(s)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Eef1a2 Mutation:  12 strains or lines available
Notes
The enzymatic specific activity of ADA (which takes into account the reduced tissue weights of wasted mice) is increased in the spleen and cerebellum but decreased in the thymus of these mutants (J:12932). Wasted mutant mice have marked lymphoid hypoplasia in the spleen, thymus, lymph nodes, and peripheral blood. Wasted mice show some similarities to human ataxia telangiectasia (AT; MIM 208900; human gene, ATM; mouse gene, Atm) (J:6766), but there are also numerous differences. But the mutant mice lack the increased sensitivity of spleen cells to killing by ultraviolet radiation (J:20567), the increased sensitivity of cultured fibroblasts to killing by X or gamma radiation (J:8348, J:13960), and the increased post-irradiation inhibition of DNA synthesis (J:7561) characteristic of AT. In addition, the immunological defects of wasted mice differ considerably from those in human AT (J:8288). Wasted mice have a severely reduced number of IgA plasma cells in the entire large and small intestine, but the level of such cells in spleen and the level of serum IgA are normal (J:7903). The mutants also show an extensive cytokine imbalance of many immunologically relevant gene products (IL5, IL1, IL2, IFNG, and TGFB1) which may trigger the wasted pathogenesis (J:19431). The overlapping similarities between AT and wasted, however, have suggested the possibility that Eef1a2 and Atm may be involved in a common pathway, such as a signal-transduction pathway that regulates protein synthesis (J:48050). In fact Eef1a2ws mice show abnormal expression of the proliferating cellular nuclear antigen (PCNA) in the thymus (J:37955).
References
Original:  J:24753 Sweet HO, Wasted (wst). Mouse News Lett. 1981;65:27
All:  24 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
12/10/2024
MGI 6.24
The Jackson Laboratory