OMIA 002043-9913 : Abortion (embryonic lethality), MED22-related in Bos taurus

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive Lethal

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2016

Molecular basis: Charlier et al. (2016): frameshift p.Leu38Argfs∗25

Breed: Belgian Blue.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
MED22 mediator complex subunit 22 Bos taurus 11 NC_037338.1 (104255759..104249112) MED22 Homologene, Ensembl, NCBI gene

Variants

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Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Belgian Blue Abortion (embryonic lethality), MED22-related MED22 deletion, small (<=20) p.Leu38Argfs∗25 2016 27646536

Reference


2016 Charlier, C., Li, W., Harland, C., Littlejohn, M., Coppieters, W., Creagh, F., Davis, S., Druet, T., Faux, P., Guillaume, F., Karim, L., Keehan, M., Kadri, N.K., Tamma, N., Spelman, R., Georges, M. :
NGS-based reverse genetic screen for common embryonic lethal mutations compromising fertility in livestock. Genome Res 26:1333-1341, 2016. Pubmed reference: 27646536. DOI: 10.1101/gr.207076.116.

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  • Created by Frank Nicholas on 01 Sep 2016