Summary | Mutation origin | Mutation description | Find Mice (IMSR) | References

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: Chr2:66101125-66271181 bp, - strand  Genetic Position: Chr2, 39.13 cM
Alliance:	Scn1atm1.1Dsf page

Germline Transmission:	Earliest citation of germline transmission: J:274710
Parent Cell Line:	Not Specified (ES Cell)
Strain of Origin:	C57BL/6J

Allele Type:    Targeted (Conditional ready, Humanized sequence, No functional change) Mutations:    Insertion, Single point mutation   Mutation details: A 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)

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:	114 strains or lines available

Original:	J:274710 Kuo FS, et al., Disordered breathing in a mouse model of Dravet syndrome. Elife. 2019 Apr 26;8:e43387
All:	20 reference(s)