OMIA 001765-9940 : Waardenburg syndrome, type 4A in Ovis aries |
Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
---|---|---|---|---|---|---|
EDNRB | endothelin receptor type B | Ovis aries | 10 | NC_056063.1 (53652245..53622505) | EDNRB | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
930 | Cameroon | Waardenburg syndrome, type 4A | EDNRB | deletion, gross (>20) | Naturally occurring variant | Oar_rambouillet_v1.0 | 10 | "a deletion of about 110 kb on sheep chromosome [OAR]10, comprising the entire EDNRB gene" | 2012 | 23300849 |
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.
2013 | Pauciullo, A., Fleck, K., Lühken, G., Di Berardino, D., Erhardt, G. : | |
Dual-color high-resolution fiber-FISH analysis on lethal white syndrome carriers in sheep. Cytogenet Genome Res 140:46-54, 2013. Pubmed reference: 23635529. DOI: 10.1159/000350786. | ||
2012 | Lühken, G., Fleck, K., Pauciullo, A., Huisinga, M., Erhardt, G. : | |
Familiar hypopigmentation syndrome in sheep associated with homozygous deletion of the entire endothelin type-B receptor gene. PLoS One 7:e53020, 2012. Pubmed reference: 23300849. DOI: 10.1371/journal.pone.0053020. | ||
2001 | Iannuzzi, L., Di Meo, G.P., Perucatti, A., Schibler, L., Incarnato, D., Cribiu, E.P. : | |
Comparative FISH mapping in river buffalo and sheep chromosomes: assignment of forty autosomal type I loci from sixteen human chromosomes. Cytogenet Cell Genet 94:43-8, 2001. Pubmed reference: 11701953. DOI: 48781. | ||
1993 | Groenewald, H.B. : | |
Ultrastructure of the Epithelium of the Rumen, Reticulum and Omasum of Grey, White and Black Karakul Lambs Onderstepoort Journal of Veterinary Research 60:197-204, 1993. Pubmed reference: 7970575. | ||
Groenewald, H.B. : | ||
Ultrastructure of the Myenteric Ganglia in the Rumen, Reticulum, Omasum and Abomasum of Grey, White and Black Karakul Lambs Onderstepoort Journal of Veterinary Research 60:189-195, 1993. Pubmed reference: 7970574. | ||
1992 | Groenewald, H.B. : | |
Scanning electron microscopy of the mucosal surface of the forestomachs and abomasa of grey, white and black Karakul lambs Onderstepoort Journal of Veterinary Research 59:167-174, 1992. Pubmed reference: 1437018. | ||
Groenewald, H.B., Booth, K.K. : | ||
A comparative study of the thickness of the tunica muscularis in the forestomach and abomasum of grey, white and black Karakul lambs Onderstepoort Journal of Veterinary Research 59:167-174, 1992. Pubmed reference: 1437027. | ||
1967 | Nell, J.A. : | |
Genetic studies in Karakul sheep Annale Universiteit Van Stellenbosch 42:1-317, 1967. |
Edit History
- Created by Frank Nicholas on 12 Jan 2013
- Changed by Frank Nicholas on 12 Jan 2013
- Changed by Frank Nicholas on 15 Jan 2013
- Changed by Frank Nicholas on 17 Jan 2013
- Changed by Frank Nicholas on 19 Jun 2013
- Changed by Frank Nicholas on 27 Aug 2013
- Changed by Frank Nicholas on 12 Dec 2017
- Changed by Frank Nicholas on 29 Jan 2018