OMIA 002035-9913 : Abortion (embryonic lethality), OBFC1-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): frame-shift p.Lys127Valfs∗28

Breed: Jersey.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
OBFC1 oligonucleotide/oligosaccharide-binding fold containing 1 Bos taurus 26 NC_037353.1 (24479875..24414692) OBFC1 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
Jersey Abortion (embryonic lethality), OBFC1-related OBFC1 deletion, small (<=20) 26 g.24720155_24720156delAA c.379_380delAA p.Lys127Valfs∗28 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.

Edit History


  • Created by Frank Nicholas on 01 Sep 2016
  • Changed by Frank Nicholas on 01 Sep 2016