ZFIN ID: ZDB-FIG-190723-1252
Lessieur et al., 2019 - Ciliary genes arl13b, ahi1 and cc2d2a differentially modify expression of visual acuity phenotypes but do not enhance retinal degeneration due to mutation of cep290 in zebrafish. PLoS One   14:e0213960 Full text @ PLoS One
Anatomical Term:
Stage: Adult
Observed In:
Stage Range: Day 5 to Adult

Fig 1

Genetic mapping and identification of cep290 mutant allele.

(A) Schematic structure of zebrafish Cep290 illustrating the location of predicted protein domains. Domain structure is based on prior results [12, 44, 45]. The cep290fh297 allele generates a premature stop codon at amino acid 1217. (B) Chromatograms of Sanger sequencing reactions of cDNAs from wild-type and homozygous cep290fh297/fh297mutant confirming the C>T replacement. (C) Quantification of cep290 mRNA in 6 month old wild-type and mutant retinas by digital droplet PCR (ddPCR). (D) Lateral views of representative wild-type (top), heterozygous (middle), and homozygous (bottom) mutants at 5 dpf. At larval stage 30% of cep290fh297/fh297 mutant animals show ventral tail curvature. (E) Lateral view of 7 month old wild-type, heterozygous and a representative cep290fh297/fh297 mutants displaying distorted vertebral column. At adult stage 100% of the homozygous mutant animals show scoliosis of the vertebral column. (F) Representative micro-CT-generated images of lateral (top) and dorsal (bottom) views of adult wild-type and cep290fh297/fh297 mutants. Images demonstrate that spinal curvature deviates within the dorsal/ventral plane as well as curves laterally (arrows). (G, top) Forward (F1) and reverse (R1) PCR primers were designed to bind sequences in exons 27 and 32 in order to flank exon 29 harboring the mutant cep290fh297 allele. Exon skipping would result in a truncated PCR product of 593 bp, while retention of exon 29 would result in a full-length 1040 bp product. (G, bottom) Results of PCR reactions from cDNAs generated from wild-type and samples of two individual mutants resulted in full-length products of 1040 bp. 100 bp ladder shown in lane 1. (H) Optokinetic response (OKR) contrast response function of 5 dpf wild-type larvae (n = 11; open circles) and cep290fh297/fh297 mutants (n = 26; closed circles). No significant differences were found. (I) OKR spatial frequency results for wild-type larvae (n = 13) and cep290fh297/fh297mutants (n = 15). Error bars = s.e.m.


Gene Expression Details
Gene Antibody Fish Conditions Stage Anatomy Assay
cep290 WT standard conditions Adult retina RTPCR
cep290fh297/fh297 standard conditions Adult retina RTPCR
Antibody Labeling Details No data available
Phenotype Details
Fish Conditions Stage Phenotype
cep290fh297/fh297 standard conditions Day 5 optokinetic behavior process quality, normal
Day 5 post-vent region curved ventral, abnormal
Day 5 post-vent region sigmoid, abnormal
Day 5 swim bladder uninflated, abnormal
Adult retina cep290 expression decreased amount, abnormal
Adult vertebral column curved lateral, abnormal
Adult vertebral column deformed, abnormal
Adult vertebral column anterior-posterior axis increased curvature, abnormal
ZFIN wishes to thank the journal PLoS One for permission to reproduce figures from this article. Please note that this material may be protected by copyright. Full text @ PLoS One