OMIA:001825-9913 : Haplotype with homozygous deficiency BH1 in Bos taurus (taurine cattle)

Categories: Mortality / aging (incl. embryonic lethal)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive lethal

Considered a defect: yes

Key variant known: no

Cross-species summary: Phenes previously called ‘Abortion due to halplotype ….. ’ or ‘Abortion (embryonic lethality)’ , have been renamed to ‘Haplotype with homozygous deficiency, …’ or a phene name that is descriptive of the phenotype observed in homozygous affected animals [14/1/2022].

Species-specific symbol: BH1

Mapping: Using genotype data from tens of thousands of North American Holsteins, Jerseys and Brown Swiss cattle each genotyped with approximately 50K SNPs on the BovineSNP50 BeadChip, VanRaden et al. (2011) identified five new recessive lethal haplotypes by searching for common haplotypes that are never homozygous in live animals. One of these haplotypes occurs in Brown Swiss only, and (following a convention proposed by breed-association staff) VanRaden et al. (2011) named it BH1, where the B stands for Brown Swiss and the H for haplotype. The disorder described in this OMIA entry is BH1, which is located in chromosome BTA7, at 41-47Mb (UMD 3.0 genome assembly). Using a research strategy similar to that of VanRaden et al. (2011), Schwarzenbacher et al. (2012) confirmed the existence of BH1 in a sample of 2,959 Brown Swiss from Austria and Germany. (sourced from Cole et al. (2014), with thanks from FN) McClure et al. (2014) refined the mapping of haplotype BH1 on chromosome BTA7 to 42,811,272 to 47,002,161 (UMD3.1). Häfliger et al. (2021) identified the same haplotype in Brown Swiss cattle in their investigation of Brown Swiss and Original Braunvieh populations reared in Switzerland - see OMIA002513-9913 for more detail.

Molecular basis: In an extensive study involving exome capture and next-gen sequencing, McClure et al. (2014) were not able to discover any potentially causal variant for haplotype BH1.

Breed: Brown Swiss (Cattle) (VBO_0000166).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2022). OMIA:001825-9913: Online Mendelian Inheritance in Animals (OMIA) [dataset].


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 Häfliger, I.M., Seefried, F.R., Spengeler, M., Drögemüller, C. :
Mining massive genomic data of two Swiss Braunvieh cattle populations reveals six novel candidate variants that impair reproductive success. Genet Sel Evol 53:95, 2021. Pubmed reference: 34915862. DOI: 10.1186/s12711-021-00686-3.
2016 Cole, J.B., Null, D.J., VanRaden, P.M. :
Phenotypic and genetic effects of recessive haplotypes on yield, longevity, and fertility. J Dairy Sci 99:7274-88, 2016. Pubmed reference: 27394947. DOI: 10.3168/jds.2015-10777.
2014 Cole, J.B., VanRaden, P.M., Null, D.J., Hutchison, J.L., Cooper, T.A., Hubbard, S.M. :
Haplotype tests for recessive disorders that affect fertility and other traits. AIP RESEARCH REPORT GENOMIC3 (09-13); , 2014.
McClure, M.C., Bickhart, D., Null, D., Vanraden, P., Xu, L., Wiggans, G., Liu, G., Schroeder, S., Glasscock, J., Armstrong, J., Cole, J.B., Van Tassell, C.P., Sonstegard, T.S. :
Bovine exome sequence analysis and targeted SNP genotyping of recessive fertility defects BH1, HH2, and HH3 reveal a putative causative mutation in SMC2 for HH3. PLoS One 9:e92769, 2014. Pubmed reference: 24667746. DOI: 10.1371/journal.pone.0092769.
2012 Schwarzenbacher, H., Fuerst, C., Fuerst-Waltl, B., Dolezal, M. :
A genome-wide search for harmful recessive haplotypes in Brown Swiss and Fleckvieh cattle. EAAP annual meeting; :Abstract p. 171, 2012.
2011 VanRaden, P.M., Olson, K.M., Null, D.J., Hutchison, J.L. :
Harmful recessive effects on fertility detected by absence of homozygous haplotypes. J Dairy Sci 94:6153-61, 2011. Pubmed reference: 22118103. DOI: 10.3168/jds.2011-4624.

Edit History

  • Created by Frank Nicholas on 12 Jun 2013
  • Changed by Frank Nicholas on 12 Jun 2013
  • Changed by Frank Nicholas on 01 Apr 2014
  • Changed by Frank Nicholas on 31 Oct 2014
  • Changed by Frank Nicholas on 24 Mar 2015
  • Changed by Imke Tammen2 on 14 Jan 2022