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Nefmtm1Mvr
Targeted Allele Detail
Summary
Symbol: Nefmtm1Mvr
Name: neurofilament, medium polypeptide; targeted mutation 1, Mala V Rao
MGI ID: MGI:2686958
Synonyms: NF-Mtaildelta
Gene: Nefm  Location: Chr14:68356994-68362453 bp, - strand  Genetic Position: Chr14, 35.46 cM
Alliance: Nefmtm1Mvr page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:87157
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 426 C-terminal residues that make up the carboxyl tail domain was replaced with a myc epitope tag and a neomycin selection cassette. The disruption was designed to leave neurofilament subunit stoichiometry unaltered. Truncated protein was detected in mutant mice by Western blot analysis of sciatic and optic nerve extracts. Normal protein was not revealed in homozygous mutant mice by these tests. (J:87157)
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: 1 strain available      Cell Lines: 0 lines available
Carrying any Nefm Mutation:  28 strains or lines available
References
Original:  J:87157 Rao MV, et al., The neurofilament middle molecular mass subunit carboxyl-terminal tail domains is essential for the radial growth and cytoskeletal architecture of axons but not for regulating neurofilament transport rate. J Cell Biol. 2003 Dec 8;163(5):1021-31
All:  5 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
12/10/2024
MGI 6.24
The Jackson Laboratory