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Nefhtm2Dwc
Targeted Allele Detail
Summary
Symbol: Nefhtm2Dwc
Name: neurofilament, heavy polypeptide; targeted mutation 2, Don W Cleveland
MGI ID: MGI:2387787
Synonyms: NF-Htaildelta, NR-Htaildelta
Gene: Nefh  Location: Chr11:4888754-4898064 bp, - strand  Genetic Position: Chr11, 3.12 cM, cytoband A1-A5
Alliance: Nefhtm2Dwc page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:78725
Parent Cell Line:  R1 (ES Cell)
Strain of Origin:  (129X1/SvJ x 129S1/Sv)F1-Kitl+
Mutation
description
Allele Type:    Targeted (Not Applicable)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsSequence encoding the 612 carboxy terminal amino acids was deleted by a Myc-tagged neo cassette inserted by homologous recombination. Western blot analysis using antibodies directed toward the carboxy terminal and the Myc epitope tag showed the exclusive presence of truncated protein in sciatic and optic nerve extracts obtained from homozyous mutant mice. (J:78725)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 2 strains available      Cell Lines: 0 lines available
Carrying any Nefh Mutation:  47 strains or lines available
References
Original:  J:78725 Rao MV, et al., Gene replacement in mice reveals that the heavily phosphorylated tail of neurofilament heavy subunit does not affect axonal caliber or the transit of cargoes in slow axonal transport. J Cell Biol. 2002 Aug 19;158(4):681-93
All:  6 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
11/12/2024
MGI 6.24
The Jackson Laboratory