Nefh^tm1Ral
Targeted Allele Detail

Summary

• Symbol: Nefh^tm1Ral
• Name: neurofilament, heavy polypeptide; targeted mutation 1, Robert A Lazzarini
• MGI ID: MGI:2183425
• Gene: Nefh Location: Chr11:4888754-4898064 bp, - strand Genetic Position: Chr11, 3.12 cM, cytoband A1-A5
• Alliance: Nefh^tm1Ral page

Lumbar root axon abnormalities in Nefm^tm1Ral/Nefm^tm1Ral and Nefh^tm1Ral/Nefh^tm1Ral Nefm^tm1Ral/Nefm^tm1Ral mice, but not Nefh^tm1Ral/Nefh^tm1Ral mice

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

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:78119
• Parent Cell Line: R1 (ES Cell)
• Strain of Origin: (129X1/SvJ x 129S1/Sv)F1-Kitl⁺

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: The insertion of a neomycin selection cassette deleted nucleotides -15 through +207, encoding the start codon and the first 71 amino acids. Low levels of transcipt were detected in homozygous mutant mice via overexposure of an RNAse protection assay. Protein was undetected by Western blot analysis using a phosphorylation independent antiserum. Immunocytochemical analysis of brain sections confirmed the absence of encoded protein in homozygous mutant mice. (J:78119)

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 Nefh Mutation: 47 strains or lines available

References

• Original: J:78119 Elder GA, et al., Requirement of heavy neurofilament subunit in the development of axons with large calibers. J Cell Biol. 1998 Oct 5;143(1):195-205
• All: 4 reference(s)