OMIA:002894-10036 : Woodhouse-Sakati syndrome in Mesocricetus auratus (golden hamster) |
Categories: Reproductive system phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 612515 (gene) , 241080 (trait)
Mendelian trait/disorder: yes
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2024
Species-specific description:
Ma et al. (2024): "As a model to explore the role of Dcaf17 in the male reproductive system, we created Dcaf17-deficient male golden hamsters using CRISPR-Cas9 technology, the results of which demonstrate that deletion of Dcaf17 led to abnormal spermatogenesis and infertility." 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
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| Dcaf17 | DDB1 and CUL4 associated factor 17 | Mesocricetus auratus | NW_024429189.1 (39589343..39616780) | Dcaf17 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1743 | Dcaf17 deficiency | Dcaf17 | deletion, small (<=20) | Genome-editing (CRISPR-Cas9) | BCM_Maur_2.0 | NW_024429189.1:g.39589667_39589671del | XM_040745545.1:c.71_75del | XP_040601479.1:p.(D24Gfs*24) | 2024 | 39239833 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:002894-10036: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
| 2024 | Ma, R., Liang, S., Zeng, W., Li, J., Lai, Y., Yang, X., Diao, F. : |
| Single-cell RNA Sequencing reveals the important role of Dcaf17 in spermatogenesis of golden hamsters. Biol Reprod :ioae132, 2024. Pubmed reference: 39239833. DOI: 10.1093/biolre/ioae132. |
Edit History
- Created by Imke Tammen2 on 08 Sep 2024
- Changed by Imke Tammen2 on 08 Sep 2024