Nefm^tm2Milg
Targeted Allele Detail

Summary

• Symbol: Nefm^tm2Milg
• Name: neurofilament, medium polypeptide; targeted mutation 2, Michael L Garcia
• MGI ID: MGI:6275063
• Synonyms: NF-M^S-E
• Gene: Nefm Location: Chr14:68356994-68362453 bp, - strand Genetic Position: Chr14, 35.46 cM
• Alliance: Nefm^tm2Milg page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:269582
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129S/SvEv

Mutation description

• Allele Type: Targeted (Hypomorph)
• Mutation: Nucleotide substitutions
• Mutation details: All seven KSP repeats (including KSD, KESP and KAESP) in exon 3 were targeted for replacement of the serine codon with a glutamate codon. This prevents serine phosphorylation in the translated peptide. Additionally, the Nefl 3' UTR and a neomycin resistance gene cassette were inserted into the 3' UTR in exon 3. (J:269582)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Nefm Mutation: 28 strains or lines available

References

• Original: J:269582 Villalon E, et al., Internode length is reduced during myelination and remyelination by neurofilament medium phosphorylation in motor axons. Exp Neurol. 2018 Aug;306:158-168
• All: 1 reference(s)