Nefh^tm2Dwc
Targeted Allele Detail

Summary

• Symbol: Nefh^tm2Dwc
• Name: neurofilament, heavy polypeptide; targeted mutation 2, Don W Cleveland
• MGI ID: MGI:2387787
• Synonyms: NF-H^taildelta, NR-Htaildelta
• Gene: Nefh Location: Chr11:4888754-4898064 bp, - strand Genetic Position: Chr11, 3.12 cM, cytoband A1-A5
• Alliance: Nefh^tm2Dwc 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 details: Sequence 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)

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: 48 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)