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Scn1atm1.1Swl
Targeted Allele Detail
Nomenclature
Symbol: Scn1atm1.1Swl
Name: sodium channel, voltage-gated, type I, alpha; targeted mutation 1.1, Shu-Wha Lin
MGI ID: MGI:5699848
Synonyms: Scn1aE1099X
Gene: Scn1a  Location: Chr2:66270781-66440837 bp, - strand  Genetic Position: Chr2, 39.13 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:221045
Parent Cell Line:  R1 (ES Cell)
Strain of Origin:  (129X1/SvJ x 129S1/Sv)F1-Kitl+
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutation:    Single point mutation
 
Mutation detailsA premature stop codon (CAG to TAG) at amino acid residue E1099 (E1099X) was introduced into the linker between domains 2 and 3. The loxP flanked neo cassette downstream of the mutation was removed via cre-mediated recombination. Western blot analysis indicates that global protein expression is reduced to 54.1% in heterozygotes and is undetectable in homozygotes, indicating a null allele. (J:221045)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
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:  72 strains or lines available
References
Original:  J:221045 Tsai MS, et al., Functional and structural deficits of the dentate gyrus network coincide with emerging spontaneous seizures in an Scn1a mutant Dravet Syndrome model during development. Neurobiol Dis. 2015 May;77:35-48
All:  1 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
02/18/2020
MGI 6.14
The Jackson Laboratory