Nefl^tm2.1Liem
Targeted Allele Detail

Summary

• Symbol: Nefl^tm2.1Liem
• Name: neurofilament, light polypeptide; targeted mutation 2.1, Ronald KH Liem
• MGI ID: MGI:5749799
• Synonyms: Nefl^N98S
• Gene: Nefl Location: Chr14:68321312-68326544 bp, + strand Genetic Position: Chr14, 35.46 cM, cytoband D3
• Alliance: Nefl^tm2.1Liem page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:220605
• Parent Cell Line: KV1 (ES Cell)
• Strain of Origin: (C57BL/6J x 129S6/SvEvTac)F1

Mutation description

• Allele Type: Targeted (Hypomorph)
• Mutations: Insertion, Single point mutation
• Mutation details: An N98S (AAC>AGC) mutation was inserted in exon 1 and a floxed neo cassette was inserted in intron 1 via homologous recombination. Cre mediated recombination removed the neo cassette. Protein levels are decreased approximately 30% in the brains and spinal cords of heterozygous mice compared to wild-type controls. Protein levels in the sciatic nerves of heterozygous mice are decreased ~80% compared to wild-type controls. (J:220605)

Disease models

Expression

In Structures Affected by this Mutation:

8 anatomical structure(s)

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 Nefl Mutation: 17 strains or lines available

References

• Original: J:220605 Adebola AA, et al., Neurofilament light polypeptide gene N98S mutation in mice leads to neurofilament network abnormalities and a Charcot-Marie-Tooth Type 2E phenotype. Hum Mol Genet. 2015 Apr 15;24(8):2163-74
• All: 3 reference(s)