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Exon 3 was replaced with one in which a C to G transversion (C387G) results in the amino acid substitution of tryptophan for cysteine at position 121 (C121W), mimicking a mutation found in some genetic epilepsy with febrile seizures plus (GEFS+) patients. A loxP was inserted upstream of the modified exon 3. A floxed neo cassette inserted downstream of the modified exon was removed by cre mediated recombination. The modified exon 3 remains floxed. (J:163771)
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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References Literature
Title
PMID
Journal
Year
IF
