Phenotypes
Cardiomyopathy, dilated — Bovine hereditary cardiomyopathy; Bovine dilated cardiomyopathy
In a segregation analysis of data from a breeding herd, Dolf et al. (1998) provided convincing evidence of autosomal recessive inheritance.
Coat colour, brown, TYRP1-related — Dun coat colour in Dexter cattle
Armed with the knowledge that TYRP1 in Dexter cattle is a strong positional candidate gene for the dun phenotype (see Mapping section above), Berryere et al. (2003) showed that dun brown coat colour in Dexter cattle is due to homozygosity for a H434Y amino acid substitution in TYRP1, due to "a C to T change in nucleotide 1300 within exon 7" of the TYRP1 gene. [FN 10 Sep 2005; 21 Sep 2012]. See also OMIA:001821-9913 : Coat colour, albinism, ocu...
Coat colour, dominant white with bilateral deafness — Glass-eyed albino; German White Fleckvieh syndrome
Philipp et al. (2011) reported a "dominantly inherited syndrome associated with hypopigmentation, heterochromia irides, colobomatous eyes and bilateral hearing loss . . . in Fleckvieh cattle"
Coat colour, white spotting
See also: OMIA:001737-9913 : Coat colour, white spotting, KIT-related in Bos taurus (taurine cattle)
Dwarfism, ACAN-related — Bulldog calf; chondrodysplasia
Information about ACAN related dwarfism in Bos indicus cattle was previously listed here and was moved to 'OMIA:001271-9915 : Dwarfism, ACAN-related in Bos indicus' [19/06/2023]
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.
Hydrallantois, SLC12A1-related — Information relating to this phene was previously listed under: OMIA 002053-9913 : Hydr...
Exome sequencing by Sasaki et al. (2016) within the candidate region (see Mapping section) revealed a likely causal missense variant: g.62382825G > A, p.Pro372Leu) in exon 10 of solute carrier family 12, member 1 (SLC12A1).
Osteopetrosis with gingival hamartomas
Comparison of whole-genome sequence by Sartelet et al. (2014), from four affecteds and eight control Belgian Blue non-carriers, revealed three SNVs "[c2244G>C + c2248T>C + c2250C>A] located in exon 23 of the CLCN7 gene encoding the anion transport protein ClC-7". The first of these is synonymous, but the second and third jointly cause "a tyrosine to glutamine substitution (TAC>CAA: Y750Q)" in a highly conserved region of the protei...