Havanna (Rabbit) — Coat colour, brown, TYRP1-related (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: Havanna (Rabbit)Disorder:Mode of inheritance: Autosomal recessiveSummary: See Robinson (1958, p. 238)Defect: no
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: TRP-1 (Entrez Gene ID 389108532) — OMIA Phene_Gene / GeneSynonym
- OMIA molecular-genetics note: Utzer et al. (2014): "A mutation in exon 2 (g.41360196G>A) leads to a premature stop codon at position 190 of the deduced amino acid sequence (p.Trp190ter). Therefore, translation predicts a truncated TYRP1 protein lacking almost completely the tyrosinase domain."
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.
- 1958. Genetic studies of the rabbit. Bibliographia Genetica — OMIA Phene_Article / Article
- 2014. A premature stop codon in the TYRP1 gene is associated with brown coat colour in the European rabbit (Oryctolagus cuniculus). Anim Genet — PubMed:PMID24814776 | DOI:10.1111/age.12171 — OMIA Phene_Article / Article
- 1924. On the Occurrence in Rabbits of Linkage in Inheritance between Albinism and Brown Pigmentation. Proc Natl Acad Sci U S A — PubMed:PMID16576859 | DOI:10.1073/pnas.10.12.486 — OMIA Phene_Article / Article
- 2021. Rabbits - their domestication and molecular genetics of hair coat development and quality. Anim Genet — PubMed:PMID33216407 | DOI:10.1111/age.13024 — OMIA Phene_Article / Article
- 2021. Analysis of MC1R, MITF, TYR, TYRP1, and MLPH genes polymorphism in four rabbit breeds with different coat colors. Animals (Basel) — PubMed:PMID33466315 | DOI:10.3390/ani11010081 — 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:612271 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:203290 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:115501 (type: gene) — OMIA Group_OMIM (via OMIA_ID)