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

Symbol:	Nefhtm1Dwc
Name:	neurofilament, heavy polypeptide; targeted mutation 1, Don W Cleveland
MGI ID:	MGI:2183246
Synonyms:	hko
Gene:	Nefh  Location: Chr11:4888754-4898064 bp, - strand  Genetic Position: Chr11, 3.12 cM, cytoband A1-A5
Alliance:	Nefhtm1Dwc page

Germline Transmission:	Earliest citation of germline transmission: J:77654
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 1.6kb of sequence containing the proximal promoter and 34 codons, including the initiator methionine codon. Transcript was undetected in homozygous mutant mice by Northern blot analysis of RNA obtained from the brain and the spinal cord. The absence of protein was confirmed via Western blot analysis using several antibodies, capable of detecting either phosphorylated or unphosphorylated protein. (J:77654)

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: 1 strain available      Cell Lines: 0 lines available
Carrying any Nefh Mutation:	48 strains or lines available

Original:	J:77654 Rao MV, et al., Neurofilament-dependent radial growth of motor axons and axonal organization of neurofilaments does not require the neurofilament heavy subunit (NF-H) or its phosphorylation. J Cell Biol. 1998 Oct 5;143(1):171-81
All:	2 reference(s)