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Scn11aem1Akoi
Endonuclease-mediated Allele Detail
Summary
Symbol: Scn11aem1Akoi
Name: sodium channel, voltage-gated, type XI, alpha; endonuclease-mediated mutation 1, Akio Koizumi
MGI ID: MGI:6392908
Synonyms: Scn11aR222S
Gene: Scn11a  Location: Chr9:119582829-119654522 bp, - strand  Genetic Position: Chr9, 71.33 cM, cytoband F3-F4
Alliance: Scn11aem1Akoi page
Mutation
origin
Strain of Origin:  C57BL/6
Mutation
description
Allele Type:    Endonuclease-mediated (Humanized sequence)
Mutation:    Single point mutation
 
Mutation detailsCRISPR/Cas9 technology generated an arginine to serine mutation at position 222 (R22S). This is a missense variant identified in Japanese families with familial episodic pain syndrome. (J:268684)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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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:268684 Okuda H, et al., Infantile Pain Episodes Associated with Novel Nav1.9 Mutations in Familial Episodic Pain Syndrome in Japanese Families. PLoS One. 2016;11(5):e0154827
All:  1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
03/19/2024
MGI 6.23
The Jackson Laboratory