Scn11a^em1Akoi
Endonuclease-mediated Allele Detail

Summary

• Symbol: Scn11a^em1Akoi
• Name: sodium channel, voltage-gated, type XI, alpha; endonuclease-mediated mutation 1, Akio Koizumi
• MGI ID: MGI:6392908
• Synonyms: Scn11a^R222S
• Gene: Scn11a Location: Chr9:119582829-119654522 bp, - strand Genetic Position: Chr9, 71.33 cM, cytoband F3-F4
• Alliance: Scn11a^em1Akoi page

Mutation origin

• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: CRISPR/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)

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: 88 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)