Zebrafish gene: cdkl5
Human gene: CDKL5 (cyclin dependent kinase like 5)
Homology score: 73%
ClinVar variants: 288
Gene description: Exhibits cyclin-dependent protein serine/threonine kinase activity. Predicted to be involved in positive regulation of axon extension; protein phosphorylation; and regulation of dendrite development. Localizes to cytoplasm and nucleus. Is expressed in several structures, including eye; fin; gonad; heart; and muscle. Human ortholog(s) of this gene implicated in Rett syndrome; early infantile epileptic encephalopathy 2; intellectual disability; and visual epilepsy. Orthologous to human CDKL5 (cyclin dependent kinase like 5).
ZFIN link: https://zfin.org/ZDB-GENE-081022-110
Ensembl link: https://uswest.ensembl.org/Danio_rerio/Gene/Summary?db=core;g=ENSDARG00000015240;r=11:30161168-30232133;t=ENSDART00000127502
Zebrafish reference(s): n/a
This gene has 4 transcripts (splice variants).
WT DNA sequence
Mutant DNA sequence
Guide RNA target sites: taatacgactcactataGGTAGAGTTTTCCCCGTCGAgttttagagctagaa
Primers:
Forward primer: gtgtctccacagAGAATGAGG
Reverse primer: cCTTCTCCACATATTCAAACACC
WT Protein sequence
N = 85
