Phenotypes
Hypermetria
No summary available.
Hyperphosphatemia
No summary available.
Hypertrichosis
No summary available.
Hypocalcaemia, resistance/susceptibility to
No summary available.
Hypohidrotic ectodermal dysplasia, X-linked, EDA-related — Congenital hypotrichosis and anodontia defect; Ectodermal dysplasia; X-linked hypohidro...
Because of the obvious homology of this disorder with the homologous human disorder, Drögemüller et al. (2001) proposed that the bovine disorder be called by the name of its human homologue, which is now done in this catalogue. The earlier names are listed here as species-specific names [Frank Nicholas 20 June 2002].
Hypokalaemia
No summary available.
Hypomagnesaemia, subclinical
No summary available.
Hypomyelinogenesis, congenital — Charolais ataxia; Progressive ataxia of Charolais
By comparing whole-genome sequenced data (from 2 affecteds and one control) in the candidate region (see Mapping section), and filtering resultant candidate variants, Duchesne et al. (2018) narrowed the field down to "a single substitution in exon 5 of KIF1C (chr19:27041449 C/T). For easier comprehension and since KIF1C gene in cattle is on the reverse strand, the substitution will be referred as KIF1C G>A in order to match with the transcr...
Hypophosphataemia
No summary available.
Hypoplasia of sex organs
No summary available.
Hypospadias
No summary available.
Hypotrichosis with coat-colour dilution (rat-tail syndrome) — rat-tail syndrome
Knaust et al. (2016) reported: "evidence that the RTS phenotype results from an epistatic interaction between three independent loci: dilution (that corresponds to the PMEL gene at 55 Mb on BTA5), extension (that corresponds to the MC1R gene on BTA18) and the RTS locus that is located in the interval between 14 and 22 Mb on BTA5. The prerequisites for expression of the RTS phenotype are a eumelanic background due to the presence of the dominan...
Hypotrichosis, generic
No summary available.
Hypotrichosis, HEPHL1-related
In a conference abstract, Marron and Beever (2012) reported the causal mutation of hypotrichosis in Belted Galloway cattle to be "an A1684T substitution in exon 9 of hephaestin-like 1 (HEPHL1) resulting in a premature stop codon (K562X)". They further noted that "Hephaestin-like 1 is responsible for copper ion transport. Copper deficiency has been shown to cause anemia, poor immune function, slower growth rates and discolored or poor hair coat...
Hypotrichosis, KRT71-related
Jacinto et al. (2021): "Protein-coding exons of six positional candidate genes with known hair or hair follicle function were re-sequenced. This revealed a protein-changing variant in the KRT71 gene that encodes a type II keratin specifically expressed in the IRS of the hair follicle (c.281delTGTGCCCA; p.Met94AsnfsX14)." This variant was previously reported by Markey et al. (2010).