An A to G change resulting in an aspartate to glycine substitution at amino acid 434 (p.D434G) was introduced in exon 10 and a loxP-flanked neomycin selection cassette was inserted downstream of the mutated exon 10. The neomycin selection cassette was removed via flp-mediated recombination. This is a variant identified in a large family of patients with generalized epilepsy and/or paroxysmal nonkinesigenic dyskinesia. (J:337228)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Not Specified
Targeted
Single point
--
1
5
1

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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