Scn1a^em1Dsf
Endonuclease-mediated Allele Detail

Summary

• Symbol: Scn1a^em1Dsf
• Name: sodium channel, voltage-gated, type I, alpha; endonuclease-mediated mutation 1, Dravet Syndrome Foundation
• MGI ID: MGI:6342949
• Synonyms: SCN1A^R613X
• Gene: Scn1a Location: Chr2:66101125-66271181 bp, - strand Genetic Position: Chr2, 39.13 cM
• Alliance: Scn1a^em1Dsf page

Mutation origin

• Strain of Origin: 129S1/SvImJ

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Insertion
• Mutation details: CRISPR/Cas9 genome editing is used to introduce an A>T point mutation at nucleotide 1837 (converting arginine (R) 613 to a STOP (X) codon) and a silent C>T mutation at position 1833 into exon 12. Mutations in Scn1a are associated with Dravet Syndrome. (J:101977)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Scn1a Mutation: 114 strains or lines available

References

• Original: J:101977 The Jackson Laboratory, Information obtained from The Jackson Laboratory, Bar Harbor, ME. Unpublished. 2005-2017
• All: 3 reference(s)