Gene description

Sequence information

Kaplan-Maier survival plot

EEG Scoring distribution

Representative mutant EEG

Zebrafish gene: pcdh19

Human gene: PCDH19 (protocadherin 19)

Homology score: 68%

ClinVar variants: 153

Gene description: Exhibits calcium ion binding activity and identical protein binding activity. Involved in brain morphogenesis; neural tube formation; and visual perception. Localizes to integral component of membrane. Is expressed in several structures, including brain; eye; immature eye; posterior neural keel; and spinal cord. Human ortholog(s) of this gene implicated in early infantile epileptic encephalopathy 9. Orthologous to human PCDH19 (protocadherin 19).

ZFIN link: https://zfin.org/ZDB-GENE-030131-4218​

Ensembl link: https://uswest.ensembl.org/Danio_rerio/Gene/Summary?db=core;g=ENSDARG00000034344;r=14:40303158-40390757;t=ENSDART00000181581​

Zebrafish reference(s): n/a

Sequences: 

This gene has 3 transcripts (splice variants).

Guide RNA target sites: taatacgactcactataGGGCTCAGATTAACCCATCGgttttagagctagaa

Primers:

Forward primer: AACCGACAGCCTTATTTGCGG

Reverse primer: TGCTTGGTGATGAGCAGTCC

Kaplan-Maier Survival Plot

EEG scoring distribution

N = 88

Representative mutant EEG