Scn11a^em1.1Frbo
Endonuclease-mediated Allele Detail

Summary

• Symbol: Scn11a^em1.1Frbo
• Name: sodium channel, voltage-gated, type XI, alpha; endonuclease-mediated mutation 1.1, Frank Bosmans
• MGI ID: MGI:8214715
• Synonyms: Nav1.9^L799P
• Gene: Scn11a Location: Chr9:119582829-119654522 bp, - strand Genetic Position: Chr9, 71.33 cM, cytoband F3-F4
• Alliance: Scn11a^em1.1Frbo page

Mutation origin

• Strain of Origin: Not Applicable

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence, Reporter)
• Mutations: Insertion, Single point mutation
• Mutation details: CRISPR/Cas9 technology inserted a cassette consisting of a loxP site, FRT site, tetO, loxP site, superfolder green fluorescent protein (sfGFP), and Scn11a containing a T to C change at position 2396 (c.2396T>C) which results in a leucine to proline substitution at residue 799 (p.L799P) immediately after the endogenous start codon. The tetO was removed via cre-mediated recombination generating a reporter expressing the mutant protein. This mutation corresponds to the p.L811P heterozygous variant identified in an individual with unbearable itch and distorted pain sensation. (J:270913)

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: 89 strains or lines available

References

• Original: J:270913 Salvatierra J, et al., A disease mutation reveals a role for NaV1.9 in acute itch. J Clin Invest. 2018 Dec 3;128(12):5434-5447
• All: 1 reference(s)