OMIA:001213-9986 : Premature senesence in Oryctolagus cuniculus (rabbit)

In other species: pig

Categories: Mortality / aging (incl. embryonic lethal)

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 150330 (gene) , 176670 (trait)

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

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
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