Eftud2^em2Lajm
Endonuclease-mediated Allele Detail

Summary

• Symbol: Eftud2^em2Lajm
• Name: elongation factor Tu GTP binding domain containing 2; endonuclease-mediated mutation 2, Loydie Anne Jerome-Majewska
• MGI ID: MGI:6358539
• Gene: Eftud2 Location: Chr11:102729299-102771811 bp, - strand Genetic Position: Chr11, 66.48 cM
• Alliance: Eftud2^em2Lajm page

Mutation origin

• Strain of Origin: CD-1 or FVB/N

Mutation description

• Allele Type: Endonuclease-mediated (Not Specified)
• Mutation: Intragenic deletion
• Mutation details: 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. (J:278323)

Disease models

Expression

In Mice Carrying this Mutation:

88 assay results

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 Eftud2 Mutation: 58 strains or lines available

References

• Original: J:278323 Beauchamp MC, et al., Loss of function mutation of Eftud2, the gene responsible for mandibulofacial dysostosis with microcephaly (MFDM), leads to pre-implantation arrest in mouse. PLoS One. 2019;14(7):e0219280
• All: 2 reference(s)