Sptbn4^tm1Msol
Targeted Allele Detail

Summary

• Symbol: Sptbn4^tm1Msol
• Name: spectrin beta, non-erythrocytic 4; targeted mutation 1, Michele Solimena
• MGI ID: MGI:3497744
• Synonyms: betaIVepsilon1^-
• Gene: Sptbn4 Location: Chr7:27055808-27147111 bp, - strand Genetic Position: Chr7, 15.88 cM, cytoband A3
• Alliance: Sptbn4^tm1Msol page

Nodes of Ranvier abnormalities in Sptbn4^tm1Msol/Sptbn4^tm1Msol mice

Show the 1 phenotype image(s) involving this allele.

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:93411
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: Exon 2 of the epsilon 1 isoform, encoding the first methionine, was replaced by a neomycin resistance gene in opposite transcriptional orientation to the gene via homologous recombination. Western and immunofluorescence analysis confirmed the absence of protein in adult brain and sciatic nerve. (J:93411)

Expression

In Structures Affected by this Mutation:

4 anatomical structure(s)

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 Sptbn4 Mutation: 122 strains or lines available

References

• Original: J:93411 Lacas-Gervais S, et al., BetaIVSigma1 spectrin stabilizes the nodes of Ranvier and axon initial segments. J Cell Biol. 2004 Oct 27;166(7):983-90
• All: 1 reference(s)