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Scn1atm1.1Aesc
Targeted Allele Detail
Nomenclature
Symbol: Scn1atm1.1Aesc
Name: sodium channel, voltage-gated, type I, alpha; targeted mutation 1.1, Andrew Escayg
MGI ID: MGI:4458373
Synonyms: Scn1aR1648H, Scn1aRH
Gene: Scn1a  Location: Chr2:66101125-66271181 bp, - strand  Genetic Position: Chr2, 39.13 cM
Spontaneous seizure in an Scn1atm1.1Aesc/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 detailsExon 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 Scn1atm1.1Aesc knock-in allele of the human R1648H mutation
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 1 anatomical structures
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:  75 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:  9 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
05/10/2022
MGI 6.19
The Jackson Laboratory