California (Rabbit) — Coat colour, agouti (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: California (Rabbit)
Disorder:
Mode of inheritance: Autosomal
Defect: no
Prevalence: Letko et al. (2020) genotyped 49 rabbits with different coat colours . . . . Out of 19 black and tan rabbits analysed, 17 carried the deletion in a homozygous state. The remaining two black and tan rabbits were heterozygous for the deletion but also heterozygous for the single base insertion, causing recessive black and thus presumably compound heterozygous a^t/a. As the a allele is recessive to a^t, rabbits with an a^t/a genotype are phenotypically black and tan. None of the 30 rabbits that were not black and tan carried the deletion in a homozygous state.

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: Entrez Gene ID 4215581 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene

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.

2010. Characterization of the rabbit agouti signaling protein (ASIP) gene: transcripts and phylogenetic analyses and identification of the causative mutation of the nonagouti black coat colour. Genomics — PubMed:PMID20004240 | DOI:10.1016/j.ygeno.2009.11.003 — OMIA Phene_Article / Article
1953. [Studies on the coat markings of wild rabbits; a contribution to the mechanism of the agouti factor.]. Z Indukt Abstamm Vererbungsl — PubMed:PMID13091004 — OMIA Phene_Article / Article
1958. Genetic studies of the rabbit. Bibliographia Genetica — OMIA Phene_Article / Article
2019. Multiple conserved elements structuring inverted repeats in the mammalian coat color-related gene Asip. Zoolog Sci — PubMed:PMID31116535 | DOI:10.2108/zs180081 — OMIA Phene_Article / Article
2020. A deletion spanning the promoter and first exon of the hair cycle-specific ASIP transcript isoform in black and tan rabbits. Anim Genet — PubMed:PMID31729778 | DOI:10.1111/age.12881 — OMIA Phene_Article / Article
2023. A genome-wide association study of coat color in Chinese Rex rabbits. Front Vet Sci — PubMed:PMID37655262 | DOI:10.3389/fvets.2023.1184764 — OMIA Phene_Article / Article

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:611742 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
OMIM:600201 (type: gene) — OMIA Group_OMIM (via OMIA_ID)

California (Rabbit) — Coat colour, agouti (hereditary; OMIA-verified breed predisposition)