Nefl-N98S

Nomenclature

C57BL/6Smoc-Neflem1(N98S)Smoc

Cat. NO.

NM-KI-200251

Strain State

Embryo cryopreservation

Export PDF

Gene Summary

Gene Symbol
Nefl

Synonyms

Nfl， NF-L， NF68， CMT2E， AI847934

NCBI ID

18039

MGI ID

97313

Ensembl ID

ENSMUSG00000022055

Pubmed

Nefl

Human Ortholog

NEFL

Model Description

These mice carry a p.N98S mutation of Nefl gene.
Research Application：Peroneal muscular atrophy

Disease Connection

Charcot-Marie-Tooth Disease Type 2E

Phenotype(s)

MGI:5751579

Reference(s)

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

You may also like

Shanghai Model Organisms Center Inc has licensed CRISPR-Cas9 technology from Broad Institute

On Dec 16, 2018, Broad Institute and Shanghai Model Organisms Center Inc (SMOC) has entered into a non-exclusive license agreement under which Broad has granted SMOC worldwide rights to commercialize a service platform for genetically modified mouse models under Broad's intellectual property.

Learn more
Customizing Mouse Models: Delivering in 100 Days to Speed Up Your Research!

At GenoBioTX, we understand that the lengthy wait times for gene-modified mouse models can hinder your research progress. Traditional methods often require 6-9 months, leading to delays and increased costs. That’s why we’re thrilled to introduce our innovative service designed to streamline this process and deliver results faster.

Learn more