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Using the CRISPR/Cas9 system, the Glu183 codon GAA was targeted and changed to valine codon GTG with the aid of a donor DNA sequence and sgRNA CTCCCCAGAAGTGCTGAGGAAAG. This mutation, in the catalytic domain of the gene, models a novel mutation in a human autism spectrum disorder (ASD) patient. Immunoblots showed a marked reduction in peptide levels for this gene in the forebrain of hetero- and homozygous mutants. (J:239596)
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
