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CRISPR/Cas9 technology generated a G to C change in exon 13 resulting in an alanine to proline substitution at residue 506 (p.A512P) which corresponds to the human A512P variant detected in an individual with developmental and epileptic encephalopathy. Immunostaining indicates that protein levels are decreased in the cortex, hippocampus, and cerebellum at P10. (J:305201)
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
