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EN
Recombinase-mediated cassette exchange was used to replace exon 2 with a loxP site, the FLAG-tagged full length human SCN5A with a G to A mutation (c.3823G to A), an FRT-flanked hygro cassette and a loxP site. The mutation results in the amino acid substitution of asparagine for aspartic acid at position 1275 (D1275N). (J:189389)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
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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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
