Miniature Horse (Horse) — Tobiano, Sabino (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: Miniature Horse (Horse)
Disorder: Tobiano, Sabino
Mode of inheritance: Autosomal dominant
Defect: yes
Prevalence: Druml et al. (2018) reported that the SB1 variant is present in three breeds (Haflinger, 14 out of 98; Noriker, four out of 189; Lipizzan one out of 329) . . . None of the SB1/sb1-carrier horses met the criteria defining the Sabino1 pattern according to current applied protocols. Esdaile et al. (2021): The estimated allele frequency of W13 in the American Miniature Horse was 0.0063 (79 N/N, 1 W13/N) and the allele was not detected in a random sample (n = 59) of Shetland ponies. In the same study 14 out of 19 all-white unregistered Shetland ponies were heterozygous for the W13 variant.
Gen test: McFadden et al. (2024, PMID:nbsp;a href=https://pubmed.ncbi.nlm.nih.gov/3833816038338160/a) propose emKIT/emnbsp;variants be reported as phased genotypes or the separation of different loci to more accurately report genotypes.

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: Using the comparative candidate-gene strategy (based on the KIT gene being associated with similar coat-colour-phenotypes in humans and pigs), Brooks and Bailey (2005) sequenced the KIT gene in horses of each of the three genotypes at a Sabino-spotting locus they called Sabino 1, and identified a splice variant (omia.variant:885), namely "a base substitution for T with A in intron 16, 1037 bases f…

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.

1978. Linkage of tobiano coat spotting and albumin markers in a pony family. Journal of Heredity — PubMed:PMID569673 — OMIA Phene_Article / Article
2002. A PCR-RFLP for KIT associated with tobiano spotting pattern in horses. Animal Genetics — PubMed:PMID12139510 — OMIA Phene_Article / Article
2005. Exon skipping in the KIT gene causes a Sabino spotting pattern in horses. Mamm Genome — PubMed:PMID16284805 | DOI:10.1007/s00335-005-2472-y — OMIA Phene_Article / Article
2004. Genetic mapping of dominant white (W), a homozygous lethal condition in the horse (Equus caballus). Journal of Animal Breeding and Genetics — OMIA Phene_Article / Article
2007. A chromosome inversion near the KIT gene and the Tobiano spotting pattern in horses. Cytogenet Genome Res — PubMed:PMID18253033 | DOI:10.1159/000112065 — OMIA Phene_Article / Article
2008. An equine chromosome 3 inversion is associated with the tobiano spotting pattern in German horse breeds. Anim Genet — PubMed:PMID18410476 | DOI:10.1111/j.1365-2052.2008.01715.x — OMIA Phene_Article / Article
2007. Allelic heterogeneity at the equine KIT locus in dominant white (W) horses. PLoS Genet — PubMed:PMID17997609 | DOI:10.1371/journal.pgen.0030195 — OMIA Phene_Article / Article
1969. Lethal dominant white in horses. J Hered — PubMed:PMID5816567 — OMIA Phene_Article / Article
2008. Genetic analysis of white facial and leg markings in the Swiss Franches-Montagnes Horse Breed. J Hered — PubMed:PMID18296388 | DOI:10.1093/jhered/esm115 — OMIA Phene_Article / Article
2009. Seven novel KIT mutations in horses with white coat colour phenotypes. Anim Genet — PubMed:PMID19456317 | DOI:10.1111/j.1365-2052.2009.01893.x — OMIA Phene_Article / Article
2009. Haematological parameters are normal in dominant white Franches-Montagnes horses carrying a KIT mutation. Vet J — PubMed:PMID19362501 | DOI:10.1016/j.tvjl.2009.02.017 — OMIA Phene_Article / Article
2010. An unexpected advantage of whiteness in horses: the most horsefly-proof horse has a depolarizing white coat. Proc Biol Sci — PubMed:PMID20129982 | DOI:10.1098/rspb.2009.2202 — OMIA Phene_Article / Article
(38 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:172800 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
OMIM:164920 (type: gene) — OMIA Group_OMIM (via OMIA_ID)

Miniature Horse (Horse) — Tobiano, Sabino (hereditary; OMIA-verified breed predisposition)