Summary | Mutation origin | Mutation description | Phenotypes | Find Mice (IMSR) | References

Symbol: Nefhtm1Ral 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: Nefhtm1Ral 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.

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+

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)

View phenotypes and curated references for all genotypes (concatenated display).

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:	48 strains or lines available

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)