OMIA 002127-9913 : Osteogenesis imperfecta, type II, COL1A1-related in Bos taurus

Possibly relevant human trait(s) and/or gene(s) (MIM number): 166210

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Dominant

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2017

Molecular basis: Bourneuf et al. (2017): a de novo likely causal variant is the indel COL1A1 p.1049_1050delinsS

Breed: Fleckvieh.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
COL1A1 collagen type I alpha 1 Bos taurus 19 NC_037346.1 (36457701..36475647) COL1A1 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
Fleckvieh Osteogenesis imperfecta, type II, COL1A1-related COL1A1 indel, small (<=20) UMD3.1 19 g.37101299_37101302delinsT p.A1049_P1050DelInsS 2017 28904385

Reference


2017 Bourneuf, E., Otz, P., Pausch, H., Jagannathan, V., Michot, P., Grohs, C., Piton, G., Ammermüller, S., Deloche, M.C., Fritz, S., Leclerc, H., Péchoux, C., Boukadiri, A., Hozé, C., Saintilan, R., Créchet, F., Mosca, M., Segelke, D., Guillaume, F., Bouet, S., Baur, A., Vasilescu, A., Genestout, L., Thomas, A., Allais-Bonnet, A., Rocha, D., Colle, M.A., Klopp, C., Esquerré, D., Wurmser, C., Flisikowski, K., Schwarzenbacher, H., Burgstaller, J., Brügmann, M., Dietschi, E., Rudolph, N., Freick, M., Barbey, S., Fayolle, G., Danchin-Burge, C., Schibler, L., Bed'Hom, B., Hayes, B.J., Daetwyler, H.D., Fries, R., Boichard, D., Pin, D., Drögemüller, C., Capitan, A. :
Rapid Discovery of De Novo Deleterious Mutations in Cattle Enhances the Value of Livestock as Model Species. Sci Rep 7:11466, 2017. Pubmed reference: 28904385. DOI: 10.1038/s41598-017-11523-3.

Edit History


  • Created by Frank Nicholas on 18 Sep 2017
  • Changed by Frank Nicholas on 18 Sep 2017
  • Changed by Frank Nicholas on 19 Sep 2017