Scn11a^tm1.1Ikth
Targeted Allele Detail

Summary

• Symbol: Scn11a^tm1.1Ikth
• Name: sodium channel, voltage-gated, type XI, alpha; targeted mutation 1.1, Ingo Kurth
• MGI ID: MGI:5558025
• Synonyms: Scn11a^L799P
• Gene: Scn11a Location: Chr9:119582829-119654522 bp, - strand Genetic Position: Chr9, 71.33 cM, cytoband F3-F4
• Alliance: Scn11a^tm1.1Ikth page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:206848
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Single point mutation
• Mutation details: Exon 16 was replaced with a modified one in which a point mutation (T-to-C) results in the amino acid substitution of leucine with proline at position 799 (p.L799P). This mutation is orthologous to the human mutation p.Leu811Pro observed in patients with loss of pain perception. Cre-mediated recombination removed a floxed neomycin resistance cassette. (J:206848)

Disease models

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: 86 strains or lines available

References

• Original: J:206848 Leipold E, et al., A de novo gain-of-function mutation in SCN11A causes loss of pain perception. Nat Genet. 2013 Nov;45(11):1399-404
• All: 2 reference(s)