Scn2a^em1Kea
Endonuclease-mediated Allele Detail

Summary

• Symbol: Scn2a^em1Kea
• Name: sodium channel, voltage-gated, type II, alpha; endonuclease-mediated mutation 1, Jennifer Kearney
• MGI ID: MGI:6390565
• Synonyms: Scn2a^E, Scn2a^K1422E
• Gene: Scn2a Location: Chr2:65451115-65597791 bp, + strand Genetic Position: Chr2, 38.61 cM
• Alliance: Scn2a^em1Kea page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: CRISPR/Cas9 editing was used to introduce a single nucleotide change AAA to GAA, resulting in substitution of glutamate for lysine at position 1422 (K1422E). This corresponds to the neurodevelopmental disorder-associated p.K1422E pathogenic variant in humans. (J:334960)

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 Scn2a Mutation: 92 strains or lines available

References

• Original: J:334960 Echevarria-Cooper DM, et al., Cellular and behavioral effects of altered NaV1.2 sodium channel ion permeability in Scn2aK1422E mice. Hum Mol Genet. 2022 Aug 25;31(17):2964-2988
• All: 2 reference(s)