OMIA:001643-10036 : Duper in Mesocricetus auratus (golden hamster) |
Categories: Behaviour / neurological phene
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Considered a defect: no
Key variant known: yes
Year key variant first reported: 2022
Species-specific description: Lee et al. (2022): "The duper mutation is a recessive mutation that shortens the period length of the circadian rhythm in Syrian hamsters. These animals show a large phase shift when responding to light pulses. ... we identified duper as an early nonsense allele of Cryptochrome 1 (Cry1) leading to a short, unstable protein ..."
Genetic engineering:
Unknown
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 |
|---|---|---|---|---|---|---|
| Cry1 | cryptochrome circadian clock 1 | Mesocricetus auratus | NW_024429195.1 (83437100..83484527) | Cry1 | 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 | Inferred EVA rsID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1491 | duper | Cry1 | deletion, small (<=20) | Naturally occurring variant | c.578del | p.(P193fs) | published as c.578delC | 2022 | 35471909 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2022). OMIA:001643-10036: 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 | Manoogian, E.N.C., Bahiru, M.S., Wang, E.J., Holder, M., Bittman, E.L. : |
| Neuroendocrine effects of the duper mutation in Syrian hamsters: a role for Cryptochrome 1. Front Physiol 15:1351682, 2024. Pubmed reference: 38444761. DOI: 10.3389/fphys.2024.1351682. | |
| 2023 | Bahiru, M.S., Bittman, E.L. : |
| Adult neurogenesis is altered by circadian phase shifts and the duper mutation in female Syrian hamsters. eNeuro 10:ENEURO.0359-22.2023, 2023. Pubmed reference: 36878716. DOI: 10.1523/ENEURO.0359-22.2023. | |
| 2022 | Lee, Y.Y., Cal-Kayitmazbatir, S., Francey, L.J., Bahiru, M.S., Hayer, K.E., Wu, G., Zeller, M.J., Roberts, R., Speers, J., Koshalek, J., Berres, M.E., Bittman, E.L., Hogenesch, J.B. : |
| duper is a null mutation of cryptochrome 1 in Syrian hamsters. Proc Natl Acad Sci U S A 119:e2123560119, 2022. Pubmed reference: 35471909. DOI: 10.1073/pnas.2123560119. | |
| 2011 | Krug, S., McKinley Brewer, J., Bois, A.S., Bittman, E.L. : |
| Effects of the duper mutation on circadian responses to light. J Biol Rhythms 26:293-304, 2011. Pubmed reference: 21775288. DOI: 10.1177/0748730411411570. | |
| Monecke, S., Brewer, J.M., Krug, S., Bittman, E.L. : | |
| Duper: a mutation that shortens hamster circadian period. J Biol Rhythms 26:283-92, 2011. Pubmed reference: 21775287. DOI: 10.1177/0748730411411569. |
Edit History
- Created by Frank Nicholas on 24 Oct 2011
- Changed by Frank Nicholas on 20 Aug 2020
- Changed by Imke Tammen2 on 14 Sep 2022