OMIA:002945-8128 : Hypogonadism, RLN3B-related in Oreochromis niloticus (Nile tilapia) |
Categories: Reproductive system phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 606855 (gene)
Single-gene trait/disorder: yes
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2024
Species-specific description: This phene includes references to studies involving gene edited or genetically modified organisms (GMO).
Molecular basis: Xu et al. (2024) "generated a homozygous mutant line of rln3b in Nile tilapia. Our findings indicated that rln3b mutation delayed spermatogenesis and led to abnormal testes structure. Knocking out rln3b gene resulted in a decrease in sperm count, sperm motility and male fish fertility."
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| rln3b | relaxin 3b | Oreochromis niloticus | LG6 | NC_031971.2 (32212199..32211442) | rln3b | Homologene, 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 | Type of Variant | Source of Genetic Variant | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1796 | Hypogonadism | rln3b | deletion, gross (>20) | Genome-editing (CRISPR-Cas9) | >500 bp deletion | 2024 | 38729472 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2025). OMIA:002945-8128: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
| 2024 | Xu, Q., Ye, M., Su, Y., Feng, L., Zhou, L., Xu, J., Wang, D. : |
| Hypogonadotropic hypogonadism in male tilapia lacking a functional rln3b gene. Int J Biol Macromol 270:S0141-8130(24)02970-2:132165, 2024. Pubmed reference: 38729472. DOI: 10.1016/j.ijbiomac.2024.132165. |
Edit History
- Created by Imke Tammen2 on 27 Apr 2025