OMIA 002268-9823 : Vitamin C deficiency in Sus scrofa
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|GULO||gulonolactone (L-) oxidase||Sus scrofa||14||NC_010456.5 (11299858..11332892)||GULO||Homologene, Ensembl, NCBI gene|
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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|
|1195||Danish Landrace||Vitamin C deficiency||GULO||od||deletion, gross (>20)||Naturally occurring variant||14||"This deletion includes 77 bp of exon VIII, 398 bp of intron 7 and 3.7 kbp of intron 8, which leads to a frame shift. The mutant protein is truncated to 356 amino acids, but only the first 236 amino acids are identical to the wild-type GULO protein." (Hasan et al., 2004)||2004||15112110|
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.
|2014||Vögeli, P., Bertschinger, H.U., Bürgi, E., Neuenschwander, S. :|
|[Inheritance and disease in the pig: possibilities of use for breeding]. Schweiz Arch Tierheilkd 156:269-77, 2014. Pubmed reference: 24867239. DOI: 10.1024/0036-7281/a000589.|
|2004||Hasan, L., Vögeli, P., Stoll, P., Kramer, S.S., Stranzinger, G., Neuenschwander, S. :|
|Intragenic deletion in the gene encoding L-gulonolactone oxidase causes vitamin C deficiency in pigs. Mamm Genome 15:323-33, 2004. Pubmed reference: 15112110. DOI: 10.1007/s00335-003-2324-6.|
|1999||Hasan, L., Vögeli, P., Neuenschwander, S., Stoll, P., Meijerink, E., Stricker, C., Jörg, H., Stranzinger, G. :|
|The L-gulono-gamma-lactone oxidase gene (GULO) which is a candidate for vitamin C deficiency in pigs maps to chromosome 14. Anim Genet 30:309-12, 1999. Pubmed reference: 10467707. DOI: 10.1046/j.1365-2052.1999.00481.x.|
|1986||Kristensen, B., Thomsen, P.D., Palludan, B., Wegger, I. :|
|Mitogen stimulation of lymphocytes in pigs with hereditary vitamin C deficiency. Acta Vet Scand 27:486-96, 1986. Pubmed reference: 3604823.|
|1983||Jensen, P.T., Basse, A., Nielsen, D.H., Larsen, H. :|
|Congenital ascorbic acid deficiency in pigs. Acta Vet Scand 24:392-402, 1983. Pubmed reference: 6675452.|
- Created by Imke Tammen2 on 20 May 2020
- Changed by Imke Tammen2 on 20 May 2020