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CRISPR/Cas9 technology generated a C to G change in the 5'-UTR of the gene. This mutation is homologous to a single-nucleotide polymorphism identified in Chinese Han children with severe intellectual disability. Transcripts of isoforms 2 and 4 are not changed but protein levels of isoforms 2 and 4 in both cerebral cortex and hippocampus are decreased. (J:307501)
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
