Zebrafish gene: gnao1b

Human gene: GNAO1 (G protein subunit alpha o1)

Homology score: 71%

ClinVar variants: 34

Gene description: Predicted to have G protein-coupled receptor binding activity; G-protein beta/gamma-subunit complex binding activity; and GTPase activity. Predicted to be involved in adenylate cyclase-modulating G protein-coupled receptor signaling pathway and dopamine receptor signaling pathway. Predicted to localize to heterotrimeric G-protein complex. Is expressed in nervous system and pronephric duct. Human ortholog(s) of this gene implicated in early infantile epileptic encephalopathy 17. Orthologous to human GNAO1 (G protein subunit alpha o1).

ZFIN link: https://zfin.org/ZDB-GENE-040426-1693

Ensembl link: https://uswest.ensembl.org/Danio_rerio/Gene/Summary?db=core;g=ENSDARG00000036058;r=7:29133321-29144547;t=ENSDART00000052346​

Zebrafish reference(s): n/a

Sequences: 

This gene has 2 transcripts (splice variants).

Guide RNA target sites: taatacgactcactataGGTGGCGGAGAGGCTCTGAAgttttagagctagaa

Primers:

Forward primer: cacacatcccagccatatgg

Reverse primer: caccacttcattagtcaattcgc

Kaplan-Maier Survival Plot

EEG scoring distribution

N = 107

Representative mutant EEG