Log In|Sign Up
EN
CRISPR/Cas9 editing was used to introduce a single nucleotide change AAA to GAA, resulting in substitution of glutamate for lysine at position 1422 (K1422E). This corresponds to the neurodevelopmental disorder-associated p.K1422E pathogenic variant in humans. (J:334960)
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
