Nemf^tvrm116
Chemically induced Allele Detail

Summary

• Symbol: Nemf^tvrm116
• Name: nuclear export mediator factor; translational vision research model 116
• MGI ID: MGI:5428666
• Synonyms: Nerf^R487G, R487G
• Gene: Nemf Location: Chr12:69358315-69403975 bp, - strand Genetic Position: Chr12, 28.78 cM, cytoband C3
• Alliance: Nemf^tvrm116 page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Chemically induced (ENU) (Hypomorph)
• Mutation: Single point mutation
• Mutation details: This ENU-induced A-to-G transition in nucleotide 1460 results in the replacement of arginine 487 with glycine (p.Arg487Gly) in the second coil motif. Western blot analysis of spinal cord lysates from 45-day-old homozygotes shows normal expression levels of the mutant protein. (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)