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CRISPR/Cas9 technology inserted two stop codons (TAGTAA) into the C666 site in exon 2. This mimics the hot-spot mutation at the C649 site of human patients with paroxysmal kinesigenic dyskinesia. Normal levels of transcripts are seen in the brain, however complete loss of protein is seen, indicating a loss-of-function mutation. (J:255335)
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
