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 | Ensembl, NCBI gene |
Variants
By default, variants are sorted chronologically by year of publication, to provide a historical perspective.
Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending
order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column
headers.
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1796 | Hypogonadism | rln3b | deletion, gross (>20) | Genome-editing (CRISPR-Cas9) | Not currently ISAG evaluated | >500 bp deletion | 2024 | 38729472 |
* 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
Contact us
If you notice anything missing or in need of change, please contact us at: [email protected].
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