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Nefltm2.1Liem
Targeted Allele Detail
Summary
Symbol: Nefltm2.1Liem
Name: neurofilament, light polypeptide; targeted mutation 2.1, Ronald KH Liem
MGI ID: MGI:5749799
Synonyms: NeflN98S
Gene: Nefl  Location: Chr14:68321312-68326544 bp, + strand  Genetic Position: Chr14, 35.46 cM, cytoband D3
Alliance: Nefltm2.1Liem 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 detailsAn 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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
03/19/2024
MGI 6.23
The Jackson Laboratory