Zebrafish gene: gnao1a

Human gene: GNAO1 (G protein subunit alpha o1)

Homology score: 91%

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 gill; nervous system; neural rod; and trigeminal placode. 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-040426-1757​

Ensembl link: https://uswest.ensembl.org/Danio_rerio/Gene/Summary?db=core;g=ENSDARG00000016676;r=18:22793465-22975655;t=ENSDART00000149685​

Zebrafish reference(s): n/a

Sequences: 

This gene has 2 transcripts (splice variants).

Guide RNA target sites: taatacgactcactataGGAGCTGGTACTCGCGGGCAgttttagagctagaa

Primers:

Forward primer: GTGATGTTGTGAGCCGTATGG

Reverse primer:  tagacgctacctaatgtggcc

Kaplan-Maier Survival Plot

EEG scoring distribution

N = 87

Representative mutant EEG