Log In|Sign Up
EN
A CRISPR/Cas9-generated missense mutation (AGC to ATC; S685I) was introduced to exon 17 of the gene. This corresponds to the human S686I missense mutation found is some individuals with autism spectrum disorder. (J:101977, J:305052)
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：
Show/Hide columns
| Phenotypes |
|---|
References Literature
Title
PMID
Journal
Year
IF
