Scn9a^tm1.1Naas
Targeted Allele Detail

Summary

• Symbol: Scn9a^tm1.1Naas
• Name: sodium channel, voltage-gated, type IX, alpha; targeted mutation 1.1, Nanda A Singh
• MGI ID: MGI:4367789
• Synonyms: Scn9a^N641Y
• Gene: Scn9a Location: Chr2:66310424-66465306 bp, - strand Genetic Position: Chr2, 39.13 cM
• Alliance: Scn9a^tm1.1Naas page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:154118
• Parent Cell Line: R1 (ES Cell)
• Strain of Origin: (129X1/SvJ x 129S1/Sv)F1-Kitl⁺

Mutation description

Allele Type: Targeted (Humanized sequence) Mutation: Insertion Mutation details: Exon 11 was replaced with one in which nucleotide substitutions resulting in the amino acid substitution of tyrosine for asparagine at position 641 (N641Y). A self-excising neo cassette was inserted upstream of exon 11 and removes itself leaving a single loxP site. (J:154118)

Generation of the Scn9a^tm1.1Naas allele

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 Scn9a Mutation: 120 strains or lines available

References

• Original: J:154118 Singh NA, et al., A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome. PLoS Genet. 2009 Sep;5(9):e1000649
• All: 1 reference(s)