OMIA 002317-9986 : abnormal gait, retinal dysplasia, cataracts, RORB-related in Oryctolagus cuniculus |
Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
---|---|---|---|---|---|---|
RORB | RAR-related orphan receptor B | Oryctolagus cuniculus | 1 | NC_013669.1 (61058004..61128489) | RORB | 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 | Inferred EVA rsID | Year Published | PubMed ID(s) | Acknowledgements |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1297 | Sauteur d'Alfort | Sauteur | RORB | s^am | splicing | Naturally occurring variant | OryCun2.0 | 1 | g.61103503G>A | This variant corresponds to a change from GT to AT in the 5’ donor site of intron 9 (Carneiro et al., 2021) | 2021 | 33764968 |
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.
2021 | Carneiro, M., Vieillard, J., Andrade, P., Boucher, S., Afonso, S., Blanco-Aguiar, J.A., Santos, N., Branco, J., Esteves, P.J., Ferrand, N., Kullander, K., Andersson, L. : | |
A loss-of-function mutation in RORB disrupts saltatorial locomotion in rabbits. PLoS Genet 17:e1009429, 2021. Pubmed reference: 33764968. DOI: 10.1371/journal.pgen.1009429. | ||
2002 | Audigier, I., Renous, S. : | |
Les allures du lapin normal peuvent-elles expliquer la marche acrobatique du «lapin sauteur d’Alfort»? Mammalia 66:563–578, 2002. | ||
1996 | Boucher, S., Renard, J.P., Joly, T. : | |
The “Alfort jumper” rabbit: historic, description and characterization. Proc 6th World Rabbit Congr. 2:255-258, 1996. | ||
1991 | Boucher, S. : | |
Le lapin Sauteur d’Alfort Rev Avic 3:91-95, 1991. | ||
1961 | Theret, M. : | |
Aspects génétiques de quelques anomalies oculaires chez les animaux domestiques. [Genetic aspect of some ocular anomalies in domestic animals]. Bull Mem Soc Fr Ophtalmol 74:505-14, 1961. Pubmed reference: 13980887. | ||
1943 | Letard, E. : | |
Troubles de la locomotion et troubles de la vision chez le lapin, liaison héréditaire. Bull Acad Vet Fr 16:184-192, 1943. | ||
1935 | Letard, E. : | |
Une mutation nouvelle chez le lapin. Bull Acad Vet Fr 8:608-610, 1935. |
Edit History
- Created by Imke Tammen2 on 06 Apr 2021
- Changed by Imke Tammen2 on 06 Apr 2021