OMIA 001079-9986 : Yellow fat in Oryctolagus cuniculus |
In other species:
sheep
,
cattle
,
horse
,
pig
Mendelian trait/disorder:
yes
Mode of inheritance:
Autosomal Recessive
Considered a defect:
no
Key variant known:
yes
Year key variant first reported:
2015
Species-specific description:
See Robinson (1958, p. 313).
Mapping:
Castle (1933) showed that the yellow fat locus is linked to albinism (OMIA 000202-9986) and brown (OMIA 001249-9986).
Molecular basis:
Strychalski et al. (2015): "novel AAT-deletion mutation at codon 248 of the BCO2 gene, which has been found in homozygous yellow-fat rabbits. The deletion mutation, located at the beginning of exon 6, results in the absence of asparagine in protein"
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| BCO2 | beta-carotene oxygenase 2 | Oryctolagus cuniculus | 1 | NC_013669.1 (104190275..104154386) | BCO2 | Homologene, Ensembl, NCBI gene |
Variants
By default, variants are sorted chronologically by year of publication, to provide a historical perspective.
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| Breed(s) | Variant Phenotype | Gene | Allele | Type of Variant | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Yellow fat | BCO2 | deletion, small (<=20) | delAAT | 2015 | 26002694 |
References
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
| 2015 | Strychalski, J., Brym, P., Czarnik, U., Gugołek, A. : | |
| A novel AAT-deletion mutation in the coding sequence of the BCO2 gene in yellow-fat rabbits. J Appl Genet 56:535-7, 2015. Pubmed reference: 26002694. DOI: 10.1007/s13353-015-0290-9. | ||
| 1969 | Howard, A.N., Gresham, G.A., Jones, D. : | |
| Aetiology of "yellow fat" disease (pansteatitis) in the wild rabbit. J Comp Pathol 79:329-34, 1969. Pubmed reference: 5348109. | ||
| 1965 | Jones, D., Gresham, G.A., Lloyd, H.G., Howard, A.N. : | |
| "Yellow fat" in the wild rabbit. Nature 207:205-6, 1965. Pubmed reference: 4161266. | ||
| 1958 | Robinson, R. : | |
| Genetic studies of the rabbit. Bibliographia Genetica 17:229–558, 1958. | ||
| 1946 | Wilson, W.K., Dudley, F.J. : | |
| Fat colour and fur colour in different varieties of rabbit. J Genet 47:290-4, 1946. Pubmed reference: 20995079. | ||
| 1933 | Castle, WE. : | |
| The Linkage Relations of Yellow Fat in Rabbits. Proc Natl Acad Sci U S A 19:947-50, 1933. Pubmed reference: 16577589. | ||
| 1930 | Pease, M. : | |
| The inheritance of yellow-fat in rabbits. Verh 1 Internat Kaninchenzuchter Kongresses, Leipzig :91-95, 1930. | ||
| 1928 | Pease, M.S. : | |
| Yellow fat in rabbits, a linked character? Verh. V. Intern. Kongr. Vererbungswissenschaft 2:1153- 1156, 1928. |
Edit History
- Created by Frank Nicholas on 19 Oct 2007
- Changed by Frank Nicholas on 11 Apr 2016
- Changed by Frank Nicholas on 03 May 2016