Phenotypes
Haemolytic anaemia
No summary available.
Haemolytic uremic syndrome
No summary available.
Haemophilia A
Khalaj et al. (2009): "A nucleotide substitution of T to A resulting in an amino acid substitution of leucine to histidine (p.Leu2153His) was identified in a highly conserved residue in the C1 domain of factor VIII. Genotyping of 254 normal animals including the pedigree of the affected animals and randomly sampled animals of different breeds confirmed that the substitution is the causative mutation of cattle haemophilia A." Analysis of whole-...
Hair, long
No summary available.
Hairy — slick
By sequencing the most likely functional positional candidate gene from the mapped region (see Mapping section), Littlejohn et al. (2014) identified a causal mutation as a "nonsynonymous SNP in exon 5 [that] encodes a p.Cys221Gly substitution highly conserved across vertebrates and other structurally related hormones, disrupting one of three disulphide bonds defining the three-dimensional (3D) structure of mature prolactin hormone" (ss10672894...
Haplotype with homozygous deficiency 05-1351 and 05-1476
No summary available.
Haplotype with homozygous deficiency 05-826
No summary available.
Haplotype with homozygous deficiency 07-501
No summary available.
Haplotype with homozygous deficiency 11-926, 11-976, 11-1001 and 11,1026
No summary available.
Haplotype with homozygous deficiency 19-151
No summary available.
Haplotype with homozygous deficiency AH2
Null et al. (2017): "A splice acceptor variant at 51,267,548 bp in the RNA Polymerase 2 Associated Protein (RPAP2) gene was the most likely causal variant in the [AH2] haplotype. RPAP2 is an essential component of the RNA polymerase 2 holoenzyme necessary for transcription of snRNA species. Experiments with mouse knockouts also found a deficiency of homozygotes, suggesting that RPAP2 is necessary for embryonic development."
Haplotype with homozygous deficiency BH1
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.
Haplotype with homozygous deficiency BH14, MRPL55-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 BH2, TUBD1-related
As reported by Schwarzenbacher et al. (2016),"Homozygous calves suffer from chronic airway disease resulting in poor growth performance and high juvenile mortality. The respiratory manifestations resemble key features of diseases resulting from impaired function of airway cilia." As pointed out carefully by Schwarzenbacher et al. (2016), not all homozygotes die, i.e. the lethal allele has incomplete penetrance.
Haplotype with homozygous deficiency BH24, CPT1C-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,...