Nemf^em8Cx
Endonuclease-mediated Allele Detail

Summary

• Symbol: Nemf^em8Cx
• Name: nuclear export mediator factor; endonuclease-mediated mutation 1, Gregory Cox
• MGI ID: MGI:6850156
• Synonyms: D106*
• Gene: Nemf Location: Chr12:69358315-69403975 bp, - strand Genetic Position: Chr12, 28.78 cM, cytoband C3
• Alliance: Nemf^em8Cx page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutation: Insertion
• Mutation details: This CRISPR/cas9-mediated insertion of a single T into the open reading frame at position 295, which causes a frameshift changing amino acids 100-105 and a premature stop codon in place of the aspartic acid at amino acid 106, yields no full length protein by western blot analysis on brain lysates from 10-day-old homozygotes. (J:296528)
• Inheritance: Recessive

Disease models

Expression

In Structures Affected by this Mutation:

4 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 Nemf Mutation: 34 strains or lines available

References

• Original: J:296528 Martin PB, et al., NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease. Nat Commun. 2020 Sep 15;11(1):4625
• All: 1 reference(s)