Scn1a^tm1.1Aesc
Targeted Allele Detail

Summary

• Symbol: Scn1a^tm1.1Aesc
• Name: sodium channel, voltage-gated, type I, alpha; targeted mutation 1.1, Andrew Escayg
• MGI ID: MGI:4458373
• Synonyms: Scn1a^R1648H, Scn1a^RH
• Gene: Scn1a Location: Chr2:66101125-66271181 bp, - strand Genetic Position: Chr2, 39.13 cM
• Alliance: Scn1a^tm1.1Aesc page

Spontaneous seizure in an Scn1a^tm1.1Aesc/Scn1a⁺ mouse

Show the 1 phenotype image(s) involving this allele.

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:161191
• Parent Cell Line: Pat5 (ES Cell)
• Strain of Origin: 129X1/SvJ

Mutation description

Allele Type: Targeted (Humanized sequence) Mutations: Insertion, Nucleotide substitutions Mutation details: Exon 26 was replaced with an frt flanked neo cassette and a modified exon 26 in which nucleotide substitution results in the amino acid substitution of histidine for arginine at position 1648 (R1648H), mimicking a mutation found in human generalized epilepsy with febrile seizures plus (GEFS+) patients. Flp mediated recombination removed the neo cassette. (J:161191)

Generation of the Scn1a^tm1.1Aesc knock-in allele of the human R1648H mutation

Disease models

Expression

In Structures Affected by this Mutation:

1 anatomical structure(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 Scn1a Mutation: 114 strains or lines available

References

• Original: J:161191 Martin MS, et al., Altered function of the SCN1A voltage-gated sodium channel leads to gamma-aminobutyric acid-ergic (GABAergic) interneuron abnormalities. J Biol Chem. 2010 Mar 26;285(13):9823-34
• All: 14 reference(s)