Scn11a^em2Akoi
Endonuclease-mediated Allele Detail

Summary

• Symbol: Scn11a^em2Akoi
• Name: sodium channel, voltage-gated, type XI, alpha; endonuclease-mediated mutation 2, Akio Koizumi
• MGI ID: MGI:6415024
• Synonyms: F1125S
• Gene: Scn11a Location: Chr9:119582829-119654522 bp, - strand Genetic Position: Chr9, 71.33 cM, cytoband F3-F4
• Alliance: Scn11a^em2Akoi page

Mutation origin

• Strain of Origin: C57BL/6NCrSlc

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Nucleotide substitutions
• Mutation details: CRISPR/Cas9 technology generated a phenylalanine to serine substitution at amino acid 1125 (F1125S). This corresponds to the human F1146S mutation identified in familial episodic pain. (J:268091)

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 Scn11a Mutation: 88 strains or lines available

References

• Original: J:268091 Kabata R, et al., Familial episodic limb pain in kindreds with novel Nav1.9 mutations. PLoS One. 2018;13(12):e0208516
• All: 1 reference(s)