Scn8a^em1Aesc
Endonuclease-mediated Allele Detail

Summary

• Symbol: Scn8a^em1Aesc
• Name: sodium channel, voltage-gated, type VIII, alpha; endonuclease-mediated mutation 1, Andrew Escayg
• MGI ID: MGI:7470853
• Synonyms: RL
• Gene: Scn8a Location: Chr15:100767739-100943819 bp, + strand Genetic Position: Chr15, 56.39 cM, cytoband F1
• Alliance: Scn8a^em1Aesc page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: CRISPR/Cas9 technology generated a G to T change resulting in an arginine to leucine substitution at amino acid 1618 (p.R1618L) located in the S4 segment of the DIV transmembrane domain. This corresponds to the human p.R1620L de novo mutation identified in a patient with autism spectrum disorder, intellectual disability and behavioral seizures. Two silent mutations were also introduced to create a Taq restriction enzyme site. (J:335370)

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 Scn8a Mutation: 101 strains or lines available

References

• Original: J:335370 Wong JC, et al., Autistic-like behavior, spontaneous seizures, and increased neuronal excitability in a Scn8a mouse model. Neuropsychopharmacology. 2021 Oct;46(11):2011-2020
• All: 2 reference(s)