PUBLICATION

Spot pattern of leopard Danio is caused by mutation in the zebrafish connexin41.8 gene

Authors
Watanabe, M., Iwashita, M., Ishii, M., Kurachi, Y., Kawakami, A., Kondo, S., and Okada, N.
ID
ZDB-PUB-060724-17
Date
2006
Source
EMBO reports   7(9): 893-897 (Journal)
Registered Authors
Kawakami, Atsushi, Kondo, Shigeru, Watanabe, Masakatsu
Keywords
none
MeSH Terms
  • Alleles
  • Animals
  • Body Patterning/genetics
  • Connexins/genetics*
  • Connexins/metabolism
  • Genetic Variation
  • HeLa Cells
  • Humans
  • Mutation
  • Phenotype
  • Pigmentation/genetics*
  • Zebrafish/genetics*
  • Zebrafish Proteins/genetics*
  • Zebrafish Proteins/metabolism
PubMed
16845369 Full text @ EMBO Rep.
Abstract
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.
Genes / Markers
Figures
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Expression
Phenotype
Mutations / Transgenics
Human Disease / Model
Sequence Targeting Reagents
Fish
Antibodies
Orthology
Engineered Foreign Genes
Mapping