OMIA 002543-9031 : Cleft primary palate, ESRP2-related in Gallus gallus
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|ESRP2||epithelial splicing regulatory protein 2||Gallus gallus||11||NC_052542.1 (2888827..2942778)||ESRP2||Homologene, Ensembl, NCBI gene|
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|
|1169||Cleft primary palate||ESRP2||deletion, small (<=20)||Naturally occurring variant||GRCg6a||11||g.3284041del||ss5200091912||2020||32162363|
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||Jaruga, A., Ksiazkiewicz, J., Kuzniarz, K., Tylzanowski, P. :|
|Orofacial cleft and mandibular prognathism-human genetics and animal models. Int J Mol Sci 23:953, 2022. Pubmed reference: 35055138. DOI: 10.3390/ijms23020953.|
|2020||Youngworth, I.A., Delany, M.E. :|
|Mapping of the chicken cleft primary palate mutation on chromosome 11 and sequencing of the 4.9 Mb linked region. Anim Genet 51:423-429, 2020. Pubmed reference: 32162363. DOI: 10.1111/age.12927.|
|2016||Schock, E.N., Chang, C.F., Youngworth, I.A., Davey, M.G., Delany, M.E., Brugmann, S.A. :|
|Utilizing the chicken as an animal model for human craniofacial ciliopathies. Dev Biol 415:326-337, 2016. Pubmed reference: 26597494. DOI: 10.1016/j.ydbio.2015.10.024.|
|2004||MacDonald, ME., Abbott, UK., Richman, JM. :|
|Upper beak truncation in chicken embryos with the cleft primary palate mutation is due to an epithelial defect in the frontonasal mass. Dev Dyn 230:335-49, 2004. Pubmed reference: 15162512. DOI: 10.1002/dvdy.20041.|
|1978||Yee, G.W., Abbott, U.K. :|
|Facial development in normal and mutant chick embryos. I. Scanning electron microscopy of primary palate formation. J Exp Zool 206:307-21, 1978. Pubmed reference: 712345. DOI: 10.1002/jez.1402060302.|
|1966||Abbott, U.K., MacCabe, J.A. :|
|Ectrodactyly: a new embryonic lethal mutation in the chicken. J Hered 57:207-11, 1966. Pubmed reference: 5971042.|
- Created by Imke Tammen2 on 25 Mar 2022