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Scn11atm1.1Ikth
Targeted Allele Detail
Nomenclature
Symbol: Scn11atm1.1Ikth
Name: sodium channel, voltage-gated, type XI, alpha; targeted mutation 1.1, Ingo Kurth
MGI ID: MGI:5558025
Synonyms: Scn11aL799P
Gene: Scn11a  Location: Chr9:119753759-119825456 bp, - strand  Genetic Position: Chr9, 71.33 cM, cytoband F3-F4
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 detailsExon 16 was replaced with a modified one in which a point mutation (T to C) results in the amino acid substitution of proline for leucine at position 799 (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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 1 anatomical structures
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:  51 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:  1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
04/09/2019
MGI 6.13
The Jackson Laboratory