Noric (Horse) — Coat colour, roan (hereditary; OMIA-verified breed predisposition)

Source: first-hand OMIA (University of Sydney) breed-specific hereditary-disorder record, saved verbatim to source_file; every claim below is a C1 byte-substring of it.

Claims

Breed: Noric (Horse)
Disorder:
Mode of inheritance: Autosomal
Defect: no
Prevalence: Grizl-Seger et al. (2020): The G -allele of the top associated SNP was present in other roan horses, namely Quarter Horse, Murgese, Slovenian, and Belgian draught horse, while it was absent in a panel of 15 breeds, including 657 non-roan horses. In further 379 gray Lipizzan horses, eight animals exhibited a heterozygous genotype (A/G).

Associated gene(s)

Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.

Gene: c-kit (Entrez Gene ID 5430480) — OMIA Phene_Gene / GeneSynonym
OMIA molecular-genetics note: Building on the results of work showing that dominant white coat colour in pigs is due to a mutation at the KIT gene (see OMIA 000209), Marklund (1997) reported very strong evidence that the KIT gene in horses is the gene for roan coat colour: a linkage study revealed zero recombinantion between Roan and KIT, and a 79 bp insertion between exons 1 and 2 of the KIT gene, creating a frameshift mutati…

Evidence (references)

Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.

1982. A linkage group composed of 3 coat colour genes and 3 serum protein loci in horses. Journal of Heredity — PubMed:PMID7096983 — OMIA Phene_Article / Article
1994. Parentage Testing and Linkage Analysis in the Horse Using a Set of Highly Polymorphic Microsatellites. Animal Genetics — PubMed:PMID8161016 — OMIA Phene_Article / Article
1999. Close association between sequence polymorphism in the KIT gene and the roan coat color in horses. Mammalian Genome — PubMed:PMID10051325 — OMIA Phene_Article / Article
2009. Molecular tests for coat colours in horses. J Anim Breed Genet — PubMed:PMID19912415 | DOI:10.1111/j.1439-0388.2009.00832.x — OMIA Phene_Article / Article
1984. Direct evidence for linkage of roan and extension loci in Belgian horses. J Hered — PubMed:PMID6481131 — OMIA Phene_Article / Article
1979. Lethal dominant roan in horses. Journal of Heredity — OMIA Phene_Article / Article
2017. Equine Color Genetics, 4th Edition. Wiley-Blackwell, Hoboken, NJ — OMIA Phene_Article / Article
2020. A genome-wide association analysis in Noriker horses identifies a SNP associated with roan coat color. J Equine Vet Sci — PubMed:PMID32303326 | DOI:10.1016/j.jevs.2020.102950 — OMIA Phene_Article / Article
2020. Coat Color Roan Shows Association with <i>KIT</i> Variants and No Evidence of Lethality in Icelandic Horses. Genes (Basel) — PubMed:PMID32580410 | DOI:10.3390/genes11060680 — OMIA Phene_Article / Article
2022. Roan coat color in livestock. Anim Genet — PubMed:PMID35811453 | DOI:10.1111/age.13240 — OMIA Phene_Article / Article
2024. Predicted genetic burden and frequency of phenotype-associated variants in the horse. Sci Rep — PubMed:PMID38600096 | DOI:10.1038/s41598-024-57872-8 — OMIA Phene_Article / Article
2024. Spotting the pattern: A review on white coat color in the domestic horse. Animals (Basel) — PubMed:PMID38338094 | DOI:10.3390/ani14030451 — OMIA Phene_Article / Article
(2 additional references in OMIA)

Comparative medicine (human OMIM)

Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.

OMIM:184745 (type: gene) — OMIA Group_OMIM (via OMIA_ID)
OMIM:611664 (type: trait) — OMIA Group_OMIM (via OMIA_ID)

Noric (Horse) — Coat colour, roan (hereditary; OMIA-verified breed predisposition)