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Scn1atm1.1Dsf
Targeted Allele Detail
Nomenclature
Symbol: Scn1atm1.1Dsf
Name: sodium channel, voltage-gated, type I, alpha; targeted mutation 1.1, Dravet Syndrome Foundation Spain
MGI ID: MGI:5615963
Synonyms: Scn1aA1783Vfl
Gene: Scn1a  Location: Chr2:66270781-66440837 bp, - strand  Genetic Position: Chr2, 39.13 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:274710
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  C57BL/6J
Mutation
description
Allele Type:    Targeted (Conditional ready, Humanized sequence, No functional change)
Mutations:    Insertion, Single point mutation
 
Mutation detailsA mini-gene cassette containing a loxP site, coding sequence for wild-type exon 26, bpA, an FRT-flanked neomycin cassette, and a second loxP site was introduced into intron 25 and a A1783V mutation was introduced into exon 26. The mutation results in a C to T change at nucleotide 5348 altering the corresponding amino acid from alanine to valine at position 1783. (J:274710)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Scn1a Mutation:  74 strains or lines available
References
Original:  J:274710 Kuo FS, et al., Disordered breathing in a mouse model of Dravet syndrome. Elife. 2019 Apr 26;8
All:  4 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
04/06/2021
MGI 6.16
The Jackson Laboratory