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Allele : Eftud2<em2Lajm> elongation factor Tu GTP binding domain containing 2; endonuclease-mediated mutation 2, Loydie Anne Jerome-Majewska

Primary Identifier  MGI:6358539 Allele Type  Endonuclease-mediated
Attribute String  Not Specified Gene  Eftud2
Strain of Origin  CD-1 or FVB/N Is Recombinase  false
Is Wild Type  false
molecularNote  CRISPR/Cas9 technology deleted exon 2. Deletion of exon 2, the first coding exon of the gene, is predicted to result in splicing into exon 3 and the generation of an alternatively spliced isoform that has been seen in human but not in mouse and is predicted to encode a truncated protein. However, transcriptional analysis shows that deletion of exon 2 has a minor effect on transcription and no significant impact on splicing in heterozygotes. RT-qPCR shows a reduction of mRNA levels in E9.5 heterozygous embryos and Western blot analysis shows a 30% reduction in protein levels in E11.5 heterozygous embryos.
  • mutations:
  • Intragenic deletion
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

4 Publication categories