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A BAC (clone 259E13) of size 187 kb containing mouse genomic sequence extending from 115 kb upstream of the Scn1a translation start site to 3 kb downstream from the polyA termination signal was modified to add a FLAG tag, an E954Q substitution (confering TTX and STX resistance), and an R1648H substitution (homologous to a mutation seen in human patients with Generalized Epilepsy with Febrile Seizures Plus). Two lines were generated, RH5 and RH9. Line RH9 had the highest level of transgene expression. (J:150454)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
Related Disease
Reference
Phenotypes
Legend：
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes：
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References Literature
Title
PMID
Journal
Year
IF
