Scn2a^tm1.1Mfri
Targeted Allele Detail

Summary

• Symbol: Scn2a^tm1.1Mfri
• Name: sodium channel, voltage-gated, type II, alpha; targeted mutation 1.1, Manuel A Friese
• MGI ID: MGI:7779740
• Synonyms: Scn2a^A263V
• Gene: Scn2a Location: Chr2:65451115-65597791 bp, + strand Genetic Position: Chr2, 38.61 cM
• Alliance: Scn2a^tm1.1Mfri page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:355207
• Parent Cell Line: R1 (ES Cell)
• Strain of Origin: (129X1/SvJ x 129S1/Sv)F1-Kitl⁺

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Single point mutation
• Mutation details: Exon 7 was replaced with exon 7 containing human p.Ala263Val (A263V) gain-of-function mutation, a C to T substitution at position 788 (c.788C>T) and a loxP-flanked ACN cassette containing cre-recombinase under the control of the testes-specific promoter from the angiotensin-converting enzyme (tACE) and a Pol II-driven neomycin resistance gene. The tACE promoter allows expression of cre during spermatogenesis resulting in removal of the ACN cassette. (J:355207)

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 Scn2a Mutation: 94 strains or lines available

References

• Original: J:355207 Schattling B, et al., Activity of Na(V)1.2 promotes neurodegeneration in an animal model of multiple sclerosis. JCI Insight. 2016 Nov 17;1(19):e89810
• All: 1 reference(s)