Scn8a^em1Mm
Endonuclease-mediated Allele Detail

Summary

• Symbol: Scn8a^em1Mm
• Name: sodium channel, voltage-gated, type VIII, alpha; endonuclease-mediated mutation 1, Miriam Meisler
• MGI ID: MGI:5578212
• Synonyms: Scn8a^N1768D, Scn8a^tm1768DMm
• Gene: Scn8a Location: Chr15:100767739-100943819 bp, + strand Genetic Position: Chr15, 56.39 cM, cytoband F1
• Alliance: Scn8a^em1Mm page

Mutation origin

• Strain of Origin: (C57BL/6J x SJL)F2

Mutation description

• Allele Type: Endonuclease-mediated (Not Applicable)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: TALEN technology was used to generate an A to G point mutation in exon 26 that results in the amino acid substitution of aspartic acid for asparagine at position 1768 (N1768D). Seven more synonymous changes within the TALEN binding sites were introduced to minimize redigestion of the targeted allele. 62 founders were identified with 13 distinct insertion/deletions in 24 mice. (J:207931)

Disease models

Expression

In Mice Carrying this Mutation:

1 RNA-Seq or microarray experiment(s)

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: 99 strains or lines available

References

• Original: J:207931 Jones JM, et al., Modeling human epilepsy by TALEN targeting of mouse sodium channel Scn8a. Genesis. 2014 Feb;52(2):141-8
• All: 16 reference(s)