OMIA 001079-9986 : Yellow fat in Oryctolagus cuniculus |
In other species: sheep , cattle , horse , pig
Category: Adipose tissue phene
Possibly relevant human trait(s) and/or gene(s) (MIM number): 611740 (gene)
Links to MONDO diseases: No links.
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_067374.1 (118159721..118107409) | BCO2 | Homologene, Ensembl, NCBI gene |
Variants
By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.
WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
| OMIA Variant ID | Breed(s) | Variant Phenotype | Gene | Allele | Type of Variant | Source of Genetic Variant | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Inferred EVA rsID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 549 | Yellow fat | BCO2 | deletion, small (<=20) | Naturally occurring variant | 1 | 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