Zebrafish gene: chd2

Human gene: CHD2 (chromodomain helicase DNA binding protein 2)

Homology score: 70%

ClinVar variants: 91

Gene description: Predicted to have ATP binding activity and DNA helicase activity. Involved in chordate embryonic development and locomotion. Predicted to localize to nucleus. Used to study childhood onset epileptic encephalopathy. Human ortholog(s) of this gene implicated in childhood onset epileptic encephalopathy. Orthologous to human CHD2 (chromodomain helicase DNA binding protein 2).

ZFIN link: https://zfin.org/ZDB-GENE-050419-256

Ensembl link: https://uswest.ensembl.org/Danio_rerio/Gene/Summary?db=core;g=ENSDARG00000060687;r=18:24933473-24989580;t=ENSDART00000163449​

Zebrafish reference(s): n/a

This gene has 3 transcripts (splice variants).

Guide RNA target sites: ATTTAGGTGACACTATAAGTCAGTCGGAGAGCGAGCAGTTTTAGAGCTAGAAATAGCAA

Primers:

Forward primer: GTTATAGCAACTCAGCATCCGAGG

Reverse primer: CGCCAGGTTGTCTTTCTTCCTGAC

Kaplan-Maier Survival Plot

EEG scoring distribution

N = 98

Representative mutant EEG