Spot pattern of leopard Danio is caused by mutation in the zebrafish connexin41.8 gene
Open accessAbstract
Leopard, a well-known zebrafish mutant that has a spotted skin pattern instead of stripes, is a model for the study of pigment patterning. To understand the mechanisms underlying stripe formation, as well as the spot variation observed in leopard, we sought to identify the gene responsible for this phenotype. Using positional cloning, we identified the leopard gene as an orthologue of the mammalian connexin 40 gene. A variety of different leopard alleles, such as leo(t1), leo(tq270) and leo(tw28), show different skin-pattern phenotypes. In this manuscript we show that the mutation in allele leo(t1) is a nonsense mutation, whereas alleles leo(tq270) and leo(tw28) contain the missense mutations I202F and I31F, respectively. Patch-clamp experiments of connexin hemichannels demonstrated that the I202F substitution in allele leo(tq270) disrupted the channel function of connexin41.8. These results demonstrate that mutations in this gene lead to a variety of leopard spot patterns.
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Recessive loss-of-function alleles in heterozygous F1 fish (c.16_25delCTGCTGGGGA, p.Lys6ThrfsX2) were selected to establish the homozygous mutant line gja5bt21mp developing the characteristic mutant phenotype similar to gja5bt1.
“Recessive loss-of-function alleles in heterozygous F1 fish (c.16_25delCTGCTGGGGA, p.Lys6ThrfsX2) were selected to establish the homozygous mutant line gja5bt21mp developing the characteristic mutant phenotype similar to gja5bt1 109,110.”
From Genomic and genetic insights into speciation and pigment pattern diversification in <i>Danio</i> fishes (2025) · cites this paper as [110]
The 'Cx41.8 is the leopard gene' section identifies leo t1 as a recessive null allele, and 'Zebrafish leopard phenotype' reports a spotted pattern in its homozygotes. The paper does not report the specified deletion, the gja5bt21mp line, or a comparison of that line with gja5bt1; it also does not use the gja5bt1 designation. (LLM, conf=0.86)
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Cites
SLC24A5, a putative cation exchanger, affects pigmentation in zebrafish and humans
Lamason, R. L., Mohideen, M.-A. P. K., Mest, J. R., Wong, A. C., Norton, H. L., Aros, M. C., Jurynec, M. J., Mao, X., Humphreville, V. R., Humbert, J. E., et al. (2005) · Science · doi:10.1126/science.1116238 · Cited by 1,043 · see citing works
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- Pearson RA, Dale N, Llaudet E, Mobbs P (2005) ATP released via gap junction hemichannels from the pigment epithelium regulates neural retinal progenitor proliferation. Neuron 46: 731-744
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Thyroid hormone regulates distinct paths to maturation in pigment cell lineages
Saunders, L. M., Mishra, A. K., Aman, A. J., Lewis, V. M., Toomey, M. B., Packer, J. S., Qiu, X., McFaline-Figueroa, J. L., Corbo, J. C., Trapnell, C., et al. (2019) · eLife · doi:10.7554/elife.45181 · Cited by 170 · see citing works
Connexins: Key Mediators of Endocrine Function
Bosco, D., Haefliger, J.-A., & Meda, P. (2011) · Physiological Reviews · doi:10.1152/physrev.00027.2010 · Cited by 169 · see citing works
Lu, J., Podobnik, M., Huang, J., McCluskey, B. M., McCarthy, S. A., Wood, J., Collins, J., Torrance, J., Sims, Y., Gao, D., et al. (2025) · doi:10.1101/2025.10.17.682988 · Cited by 4 · see citing works
- Authors
- Watanabe, M., Iwashita, M., Ishii, M., Kurachi, Y., Kawakami, A., Kondo, S., & Okada, N.
- Affiliations
- Tokyo Institute of Technology (JP)
- The University of Osaka (JP)
- RIKEN (JP)
- Corresponding author
- Okada, Norihiro
- Venue
- The EMBO Reports
- Published
- 2006-07-14
- Volume
- 7
- Issue
- 9
- Pages
- 893-897
- ISSN
- 1469-221X (ISSN-L)
- 1469-3178
- PMC
- PMC1559663
- OpenAlex
- W2123502357
- Cited by
- 186
- References
- 1
- Citations by year
- 2026: 5 · 2025: 12 · 2024: 5 · 2023: 9 · 2022: 4 · 2021: 12 · 2020: 13 · 2019: 14 · 2018: 9 · 2017: 9 · 2016: 9 · 2015: 11 · 2014: 15 · 2013: 7 · 2012: 13
- FWCI
- 3.27
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- EMBO Reports (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Institutional Repositories DataBase (IRDB) (submittedVersion)
- Tokyo Tech Research Repository (Tokyo Institute of Technology) (submittedVersion)
- Funders
- Ministry of Education, Culture, Sports, Science and Technology
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Developmental Biology and Gene Regulation
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › Zebrafish Biomedical Research Applications
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › melanin and skin pigmentation
- Keywords
- zebrafish, skin pigmentation patterns, spot patterns, stripe formation, positional cloning, nonsense mutation, missense mutations, connexin hemichannels, channel function
- MeSH terms
- Alleles, Animals, HeLa Cells, Humans, Mutation, Phenotype, Pigmentation, Genetic Variation, Zebrafish, Connexins, Body Patterning, Zebrafish Proteins
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