OMIA 002342-9940 : Ciliary dyskinesia, primary, CCDC65-related in Ovis aries
Also, Ben Braiek et al. (2022) reported "the segregation of the CCDC65 c.521G > T variant not only in the Lacaune dairy population but also in the Lacaune meat and Blanche du Massif Central (BMC) populations".Genetic testing: Ben Braiek et al. (2022): "The management of this lethal recessive allele (frequency of 0.06) through reasoned mating in the Lacaune sheep selection schemes could reduce lamb mortality by 2%." Breeds: Blanche du Massif Central, Lacaune. Associated gene:
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|CCDC65||coiled-coil domain containing 65||Ovis aries||3||NC_056056.1 (137300335..137291505)||CCDC65||Homologene, Ensembl, NCBI gene|
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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|
|1403||Blanche du Massif Central Lacaune||Ciliary dyskinesia, primary (respiratory failure)||CCDC65||LDHH6||nonsense (stop-gain)||Naturally occurring variant||Oar_rambouillet_v1.0||3||g.147207999C>A||c.521G>T||p.(E111*)||XM_004006389.4; XP_004006438.1; published as NC_040254.1:g.147,207,999C>A||rs1085624756||2021||35052387|
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||Ben Braiek, M., Fabre, S., Hozé, C., Astruc, J.M., Moreno-Romieux, C. :|
|Identification of homozygous haplotypes carrying putative recessive lethal mutations that compromise fertility traits in French Lacaune dairy sheep. Genet Sel Evol 53:41, 2021. Pubmed reference: 33932977. DOI: 10.1186/s12711-021-00634-1.|
|Ben Braiek, M., Moreno-Romieux, C., Allain, C., Bardou, P., Bordes, A., Debat, F., Drögemüller, C., Plisson-Petit, F., Portes, D., Sarry, J., Tadi, N., Woloszyn, F., Fabre, S. :|
|A Nonsense Variant in <i>CCDC65</i> Gene Causes Respiratory Failure Associated with Increased Lamb Mortality in French Lacaune Dairy Sheep. Genes (Basel) 13:45, 2021. Pubmed reference: 35052387. DOI: 10.3390/genes13010045.|
- Created by Imke Tammen2 on 26 May 2021
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- Changed by Frank Nicholas on 05 Jan 2022
- Changed by Imke Tammen2 on 29 Jan 2022