Scn2a^tm1Mml
Targeted Allele Detail

Summary

• Symbol: Scn2a^tm1Mml
• Name: sodium channel, voltage-gated, type II, alpha; targeted mutation 1, Mauricio Montal
• MGI ID: MGI:2180186
• Synonyms: NaCh(alphaII)-
• Gene: Scn2a Location: Chr2:65451115-65597791 bp, + strand Genetic Position: Chr2, 38.61 cM
• Alliance: Scn2a^tm1Mml page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:76457
• Parent Cell Line: R1 (ES Cell)
• Strain of Origin: (129X1/SvJ x 129S1/Sv)F1-Kitl⁺

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: Most of exon 1, which encodes amino acids 1-89, was replaced with a neomycin resistance gene via homologous recombination. RNase protection assays using whole brain preparations from homozygous mutant animals revealed a greater than 85% reduction in gene expression compared to wild-type. Protein expression was barely detectable as determined by Western blot analysis. (J:76457)

Expression

In Structures Affected by this Mutation:

2 anatomical structure(s)

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:76457 Planells-Cases R, et al., Neuronal death and perinatal lethality in voltage-gated sodium channel alpha(II)-deficient mice. Biophys J. 2000 Jun;78(6):2878-91
• All: 11 reference(s)