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Scn1atm1Wac
Targeted Allele Detail
Summary
Symbol: Scn1atm1Wac
Name: sodium channel, voltage-gated, type I, alpha; targeted mutation 1, William A Catterall
MGI ID: MGI:3665322
Synonyms: Nav1.1(-), Scn1a-
Gene: Scn1a  Location: Chr2:66101125-66271181 bp, - strand  Genetic Position: Chr2, 39.13 cM
Alliance: Scn1atm1Wac page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:113149
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 detailsA neomycin resistance gene replaced the last coding exon. This exon encodes domain IV downstream of the S3 segment and the cytoplasmic tail. Immunoblot failed to detect protein in mutant brain samples. (J:113149)
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 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:113149 Yu FH, et al., Reduced sodium current in GABAergic interneurons in a mouse model of severe myoclonic epilepsy in infancy. Nat Neurosci. 2006 Sep;9(9):1142-9
All:  22 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
03/19/2024
MGI 6.23
The Jackson Laboratory