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CRISPR/Cas9 technology changed two nucleotides (T to A produces the stop codon, while a C to T change seven bp upstream affects the XmaI site) to alter the coding sequences of arginine to a stop codon at residue 533 (R533*) in exon 4. This mutation corresponds to the autism spectrum disorder-linked R536* mutation in patients. (J:300704)
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
