Eef1a2<em1Abb> Endonuclease-mediated Allele Detail MGI Mouse (MGI:7277681)

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)

Phenotypes

View phenotypes and curated references for all genotypes (concatenated display).

Expression

In Structures Affected by this Mutation:

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)

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