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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

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 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
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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

References

Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.

2024 [No authors listed] :
Correction to: Single-cell RNA sequencing reveals the important role of Dcaf17 in spermatogenesis of golden hamsters. Biol Reprod :ioae144, 2024. Pubmed reference: 39376075. DOI: 10.1093/biolre/ioae144.
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