OMIA:001213-9986 : Premature senesence in Oryctolagus cuniculus (rabbit) |
In other species: pig
Categories: Mortality / aging (incl. embryonic lethal)
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 150330 (gene) , 176670 (trait)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2019
Cross-species summary: Progeria, Progeria Syndrome, Hutchinson-Gilford progeria
Species-specific name: Premature aging syndrome
Species-specific description: The affected rabbits produced by Sui et al. (2019) are the result of "precise LMNA targeting in rabbits via co-injection of Cas9/sgRNA mRNA into zygotes", i.e. it is a knock-out model of human premature aging inherited disorders. The affected rabbits described in more recent studies are generated by genome editing or base editing and are considered genetically-modified organisms (GMO).
Genetic engineering:
Yes - in addition to the occurrence of natural variants, 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 |
|---|---|---|---|---|---|---|
| LMNA | lamin A/C | Oryctolagus cuniculus | 13 | NC_067386.1 (37036264..37017676) | LMNA | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1521 | Emery-Dreifuss muscular dystrophy | LMNA | missense | Base-editing | p.(L530P) | 2022 | 35282412 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:001213-9986: 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.
| 2022 | Zhao, D., Qian, Y., Li, J., Li, Z., Lai, L. : |
| Highly efficient A-to-G base editing by ABE8.17 in rabbits. Mol Ther Nucleic Acids 27:1156-1163, 2022. Pubmed reference: 35282412. DOI: 10.1016/j.omtn.2022.01.019. | |
| 2020 | Liu, Z., Chen, S., Shan, H., Jia, Y., Chen, M., Song, Y., Lai, L., Li, Z. : |
| Efficient base editing with high precision in rabbits using YFE-BE4max. Cell Death Dis 11:36, 2020. Pubmed reference: 31959743. DOI: 10.1038/s41419-020-2244-3. | |
| 2019 | Sui, T., Liu, D., Liu, T., Deng, J., Chen, M., Xu, Y., Song, Y., Ouyang, H., Lai, L., Li, Z. : |
| LMNA-mutated rabbits: A model of premature aging syndrome with muscular dystrophy and dilated cardiomyopathy. Aging Dis 10:102-115, 2019. Pubmed reference: 30705772. DOI: 10.14336/AD.2018.0209. | |
| 2018 | Liu, Z., Chen, M., Chen, S., Deng, J., Song, Y., Lai, L., Li, Z. : |
| Highly efficient RNA-guided base editing in rabbit. Nat Commun 9:2717, 2018. Pubmed reference: 30006570. DOI: 10.1038/s41467-018-05232-2. | |
| 1960 | Pearce, L., Brown, W.H. : |
| Hereditary premature sensescence of the rabbit. I. Chronic form; general features. J Exp Med 111:485-504, 1960. Pubmed reference: 13733754. | |
| Pearce, L., Brown, W.H. : | |
| Hereditary premature senescence of the rabbit. II. Acute form; general features. J Exp Med 111:505-16, 1960. Pubmed reference: 13733753. |
Edit History
- Created by Frank Nicholas on 06 Sep 2005
- Changed by Frank Nicholas on 12 Feb 2019
- Changed by Imke Tammen2 on 26 Jan 2021
- Changed by Imke Tammen2 on 28 Jan 2021
- Changed by Imke Tammen2 on 10 Jan 2023
- Changed by Imke Tammen2 on 12 Dec 2023
- Changed by Imke Tammen2 on 18 Jan 2024