OMIA 001595-9940 : Brachygnathia, cardiomegaly and renal hypoplasia syndrome in Ovis aries
Mendelian trait/disorder: yes Mode of inheritance: Autosomal Recessive Considered a defect: yes Key variant known: no Species-specific symbol: BCRHS History: This lethal disorder was first described by Shariflou et al. (2011). Its clinical signs are well described by its name. Mapping: By genotyping 10 affected and 27 control Merinos, each with the Illumina Ovine SNP50 BeadChip (yielding 40,899 informative SNPs), Shariflou et al. (2013) used GWAS and homozygosity mapping to locate this disorder to "a region comprising 20 consecutive SNPs spanning 1.1 Mb towards the distal end of chromosome OAR2".
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.
|2013||Shariflou, M.R., Wade, C.M., Kijas, J., McCulloch, R., Windsor, P.A., Tammen, I., Nicholas, F.W. :|
|Brachygnathia, cardiomegaly and renal hypoplasia syndrome (BCRHS) in Merino sheep maps to a 1.1-megabase region on ovine chromosome OAR2. Anim Genet 44:231-3, 2013. Pubmed reference: 22762779. DOI: 10.1111/j.1365-2052.2012.02392.x.|
|2011||Shariflou, M., Wade, C., Windsor, P., Tammen, I., James, J.W., Nicholas, F.W. :|
|Lethal genetic disorder in Poll Merino/Merino sheep in Australia. Aust Vet J 89:254-9, 2011. Pubmed reference: 21696373. DOI: 10.1111/j.1751-0813.2011.00789.x.|
- Created by Frank Nicholas on 03 Aug 2011
- Changed by Frank Nicholas on 06 Jul 2012
- Changed by Frank Nicholas on 26 Aug 2013