Scn2a^tm1.1Kzy
Targeted Allele Detail

Summary

• Symbol: Scn2a^tm1.1Kzy
• Name: sodium channel, voltage-gated, type II, alpha; targeted mutation 1.1, Kazuhiro Yamakawa
• MGI ID: MGI:6273225
• Synonyms: Scn2a^RX
• Gene: Scn2a Location: Chr2:65451115-65597791 bp, + strand Genetic Position: Chr2, 38.61 cM
• Alliance: Scn2a^tm1.1Kzy page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:268565
• Parent Cell Line: E14 (ES Cell)
• Strain of Origin: 129P2/OlaHsd

Mutation description

• Allele Type: Targeted (Humanized sequence, Null/knockout)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: A loxP site and FRT flanked neo cassette were inserted in intron 1 and an arginine to stop (p.Arg102*; c.304 CGG>TGA) mutation was inserted in exon 2 via homologous recombination. Flp-mediated recombination removed the neo cassette. Western blot analysis indicated lack of expression in whole brain lysates from homozygous mice. (J:268565)

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: 94 strains or lines available

References

• Original: J:268565 Ogiwara I, et al., Nav1.2 haplodeficiency in excitatory neurons causes absence-like seizures in mice. Commun Biol. 2018;1
• All: 1 reference(s)