Phenotypes
Haplotype with homozygous deficiency BH6, MARS2-related
Häfliger et al. (2021) investigated “the two Braunvieh populations reared in Switzerland, the dairy Brown Swiss (BS) and the dual-purpose Original Braunvieh (OB). We performed a genome-wide analysis of array data of trios (sire, dam, and offspring) from the routine genomic selection to identify candidate regions showing missing homozygosity and phenotypic associations with five fertility, ten birth, and nine growth-related traits. In addition,...
Haplotype with homozygous deficiency FH1
No summary available.
Haplotype with homozygous deficiency FH3
No summary available.
Haplotype with homozygous deficiency FH4
Missense mutatiopn: c.949T>C, p.W317R (11,131,497 bp; rs110793536; UMD3.1 assembly) in SUGT1 (Pausch et al., 2015)
Haplotype with homozygous deficiency FH5 — Fleckvieh Haplotyp 5 (FH5)
No summary available.
Haplotype with homozygous deficiency HH1, APAF1-related — Haplotype HH1
Adams et al. (2012) revealed the causal mutation of HH1 as "a nonsense mutation in APAF1 . . . , which is predicted to truncate approximately one-third of the encoded APAF1 protein". Because functional APAF1 peptide is required for embryo development, homozygosity for this allele results in natural spontaneous abortion, and, consequently, perceived reduced fertility in carrier bulls that happen to be mated to carrier cows. Adams et al. (2016) ...
Haplotype with homozygous deficiency HH10
No summary available.
Haplotype with homozygous deficiency HH11
No summary available.
Haplotype with homozygous deficiency HH12
No summary available.
Haplotype with homozygous deficiency HH13, KIR2DS1-related
Based on strong evidence obtained in Swiss Holsteins, Häfliger et al (2022) proposed KIR2DS1:p.Gln159* as the likely causal variant for haplotype HH13.
Haplotype with homozygous deficiency HH14
No summary available.
Haplotype with homozygous deficiency HH15
No summary available.
Haplotype with homozygous deficiency HH16
No summary available.
Haplotype with homozygous deficiency HH17
No summary available.
Haplotype with homozygous deficiency HH2, IFT80-related — Haplotype HH2
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 HH2. Yang et al. (2021): "Short- and long-read WGS was performed on four carriers and four non-carriers of HH2 to screen for variants in concordance with HH2 haplotype status.Sequence variation analysis revealed five putative functional variants of protein-coding genes, including a...