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OMIA 001079-9986 : Yellow fat in Oryctolagus cuniculus

In other species: sheep , cattle , horse , pig

Possibly relevant human trait(s) and/or gene(s) (MIM number): 611740 (gene)

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. 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.

Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Inferred EVA rsID Year Published PubMed ID(s) Acknowledgements
Yellow fat BCO2 deletion, small (<=20) 1 delAAT 2015 26002694
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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