Exon 26 was replaced with an frt flanked neo cassette and a modified exon 26 in which nucleotide substitution results in the amino acid substitution of histidine for arginine at position 1648 (R1648H), mimicking a mutation found in human generalized epilepsy with febrile seizures plus (GEFS+) patients. Flp mediated recombination removed the neo cassette. (J:161191)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129X1/SvJ
Targeted
Insertion, Nucleotide substitutions
--
1
23
14

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

Title
PMID
Journal
Year
IF
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