OMIA:002887-37003 : Ectodermal dysplasia, EDARADD-related in Kryptolebias marmoratus (mangrove rivulus)

In other species: Arabian toothcarp , corn snake

Categories: Skeleton phene (incl. short stature & teeth) , Integument (skin) phene , Limbs / fins / digit / tail phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 606603 (gene) , 614940 (trait) , 614941 (trait)

Single-gene trait/disorder: yes

Mode of inheritance: Probably autosomal recessive

Disease-related: yes

Key variant known: yes

Year key variant first reported: 2025

Species-specific symbol: nfr

Molecular basis: Saud et al. (2025) investigated a novel ENU-mutated mangrove killifish line with reduced fin development and identified a likely causal missense variant in the edaradd gene in a highly conserved C-terminal death domain and confirmed the functional effect by creating edaradd CRISPR knock out Arabian killifish. This study involves gene edited or genetically modified organisms (GMO).

Genetic engineering: Yes - 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

Clinical features: Saud et al. (2025): "Nfr mutant presented clear phenotype showing deletion in all fins ... ."

Pathology: Saud et al. (2025): "The phenotype examination in the skin and mouth parts revealed scales were not visible with alizarin red staining and decreasing in the number of teeth in jaws and pharyngeal teeth ... . It was observed remain the big teeth with missing the small one in both jaws and pharyngeal teeth. In addition, there was an obvious and dramatic decrease in the number of gill filaments and gill rakers."

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
edaradd EDAR-associated death domain Kryptolebias marmoratus LG22 NC_051451.1 (11401900..11427251) edaradd 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
1869 Ectodermal dysplasia, no-fin-ray edaradd nfr substitution missense Chemical mutagenesis (ENU) Not currently evaluated ASM164957v2 LH22 NC_051451.1:g.11425249C>T XM_017421743.3:c.574C>T XP_017277232.1:p.(R192C) 2025 39837941

* 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. (2026). OMIA:002887-37003: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

Reference

2025 Saud, H.A., O'Neill, P.A., Ring, B.C., Kudoh, T. :
Developmental defects in ectodermal appendages caused by missense mutation in edaradd gene in the nfr mangrove killifish kryptolebias marmoratus. Sci Rep 15:2660, 2025. Pubmed reference: 39837941. DOI: 10.1038/s41598-024-82276-z.

Edit History


  • Created by Imke Tammen2 on 07 Jan 2026
  • Changed by Imke Tammen2 on 07 Jan 2026