OMIA:002769-8090 : Fins, loss of dorsal in Oryzias latipes (Japanese medaka)

In other species: goldfish

Categories: Limbs / fins / digit / tail phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 616724 (trait)

Single-gene trait/disorder: yes

Mode of inheritance: Autosomal recessive

Disease-related: unknown

Key variant known: yes

Year key variant first reported: 2024

Species summary: Adachi et al. (2024) describe spontaneous mutant medaka lacking the dorsal fin.

Species-specific name: dorsalfinless

Species-specific symbol: dfl

Molecular basis: Adachi et al. (2024) investigated dorsalfinless (dfl) in medaka:  "Genome sequencing revealed that transposon-like DNA of approximately 12.8 kb was inserted in 3′ UTR of hoxc11a, while the coding sequence remained intact ... . In dfl mutants, the expression of hoxc11a was significantly reduced, while the expression of neighboring hoxc12a was not ... , indicating that dfl is a hypomorphic allele of hoxc11a. For reproducibility, [the aurhors] used CRISPR-Cas9 to create medaka hoxc11a mutants and found the recapitulation of the complete absence of the dorsal fin ... ."

Genetic engineering: Yes - in addition to the occurrence of natural variants, variants have been created artificially, e.g. by genetic engineering or gene editing
Have human generated variants been created, e.g. through genetic engineering and gene editing

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
hoxc11a homeobox C11a Oryzias latipes 7 NC_019865.2 (12719860..12723349) hoxc11a Ensembl, NCBI gene

Variants

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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.

Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.

OMIA Variant ID Breed(s) Variant Phenotype Gene Allele Variant Type Variant Effect Source of Genetic Variant Pathogenicity Classification* Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
1800 dorsalfinless hoxc11a insertion, gross (>20) Naturally occurring variant Not currently evaluated 7 insertion of 12.8 kb transposon-like DNA in 3′ UTR of hoxc11a resulting in reduced expression of hoxc11a 
2024 38861596

* Variant pathogenicity for single gene diseases as evaluated by an expert panel of the International Society of Animal Genetics (ISAG) Animal Genetic Testing Standardization Standing Committee

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Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2025). OMIA:002769-8090: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

Reference

2024 Adachi, U., Koita, R., Seto, A., Maeno, A., Ishizu, A., Oikawa, S., Tani, T., Ishizaka, M., Yamada, K., Satoh, K., Nakazawa, H., Furudate, H., Kawakami, K., Iwanami, N., Matsuda, M., Kawamura, A. :
Teleost Hox code defines regional identities competent for the formation of dorsal and anal fins. Proc Natl Acad Sci U S A 121:e2403809121, 2024. Pubmed reference: 38861596. DOI: 10.1073/pnas.2403809121.

Edit History


  • Created by Imke Tammen2 on 01 May 2025
  • Changed by Imke Tammen2 on 01 May 2025