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

Symbol:	Sptbn4tm1Mkom
Name:	spectrin beta, non-erythrocytic 4; targeted mutation 1, Masayuki Komada
MGI ID:	MGI:3710201
Synonyms:	sigma 1-
Gene:	Sptbn4  Location: Chr7:27055808-27147111 bp, - strand  Genetic Position: Chr7, 15.88 cM, cytoband A3
Alliance:	Sptbn4tm1Mkom page

Germline Transmission:	Earliest citation of germline transmission: J:120916
Parent Cell Line:	AK7 (ES Cell)
Strain of Origin:	129S4/SvJaeSor

Allele Type:    Targeted (Null/knockout) Mutations:    Insertion, Intragenic deletion   Mutation details: The sigma 1-specific targeting vector was designed to replace exon 1 and part of exon 2 with a neomycin resistance cassette in reverse orientation. Immunoblot confirmed the absence of the sigma 1 isoform, and the normal expression of the sigma 6 isoform. (J:120916)

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 Sptbn4 Mutation:	122 strains or lines available

Original:	J:120916 Uemoto Y, et al., Specific role of the truncated betaIV-spectrin Sigma6 in sodium channel clustering at axon initial segments and nodes of ranvier. J Biol Chem. 2007 Mar 2;282(9):6548-55
All:	1 reference(s)