A 4 kb promoter fragment from the rat NSE gene that includes 2.8 kb of 5'-flanking sequence, exon 1, intron 1 and 6 bp of exon 215 was used to drive expression of a mutant form of Scn2a1 containing a replacement of residues 879 to 881 (glycine-alanine-leucine) of the wild-type channel with three glutamine residues in the encoded mutant protein. These mutations are in the S4/S5 cytoplasmic linker of domain 2. In addition, a FLAG epitope is located immediately downstream of the initiator methionine. RT-PCR of RNA from dissected brain regions demonstrated that the transgene is widely expressed. No expression in other tissues was detected except for a low level in heart and spleen. (J:108884)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
Related Disease
Reference
(C57BL/6J x SJL/J)F2
--
Insertion
--
1
--
12

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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Phenotypes

References Literature

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PMID
Journal
Year
IF
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