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Nefmtm1Ral
Targeted Allele Detail
Summary
Symbol: Nefmtm1Ral
Name: neurofilament, medium polypeptide; targeted mutation 1, Robert A Lazzarini
MGI ID: MGI:2180135
Gene: Nefm  Location: Chr14:68356994-68362453 bp, - strand  Genetic Position: Chr14, 35.46 cM
Alliance: Nefmtm1Ral page
Lumbar root axon abnormalities in Nefmtm1Ral/Nefmtm1Ral and Nefhtm1Ral/Nefhtm1Ral Nefmtm1Ral/Nefmtm1Ral mice, but not Nefhtm1Ral/Nefhtm1Ral mice

Show the 4 phenotype image(s) involving this allele.

Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:47438
Parent Cell Line:  R1 (ES Cell)
Strain of Origin:  (129X1/SvJ x 129S1/Sv)F1-Kitl+
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutation:    Insertion
 
Mutation detailsExon 1 was disrupted by insertion of a PGK-neo cassette by homologous recombination. RNase protection assays using probes to exon 1 and exon 3 did not detect gene expression in brain of homozygous mutant animals. Western blot analysis and immunohistochemistry of brain sections from homozygous mutant animals confirmed the absence of protein expression. (J:47438)
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: 0 strains available      Cell Lines: 0 lines available
Carrying any Nefm Mutation:  28 strains or lines available
References
Original:  J:47438 Elder GA, et al., Absence of the mid-sized neurofilament subunit decreases axonal calibers, levels of light neurofilament (NF-L), and neurofilament content. J Cell Biol. 1998 May 4;141(3):727-39
All:  4 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