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Threonine codon 503 (ACT) in exon 6 was changed to alanine (GCA) (NP_001380595.1:p.T503A) using an sgRNA and an ssODN template with CRISPR/Cas9 technology. This mutation is the equivalent of the human NP_570853.1:p.T485A gain-of-function mutation associated with autism when expressed from the paternal allele. (J:338299)
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
