OMIA 001672-9615 : Primary hyperoxaluria type I (Oxalosis I) in Canis lupus familiaris |
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers):
259900
,
604285
Mendelian trait/disorder:
yes
Mode of inheritance:
Autosomal Recessive
Considered a defect:
yes
Key variant known:
yes
Year key variant first reported:
2012
Molecular basis:
Exon sequencing of the candidate gene AGXT in Coton du Tulear dogs by Vidgren et al. (2012) revealed a missense mutation to be the cause of this disorder; specifically "a single base change (c.996G>A) that changed one conserved residue (p.Gly102Ser)".
Breeds:
Coton de Tulear,
Tibetan spaniel.
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| LOC607355 | serine--pyruvate aminotransferase, mitochondrial | Canis lupus familiaris | 25 | NC_006607.3 (50717157..50725297) | LOC607355 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Coton de Tulear | Primary hyperoxaluria type I (Oxalosis I) | AGXT | missense | CanFam3.1 | 25 | g.50968854G>A | c.304G>A | p.G102S | 2012 | 22486513 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool |
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.
| 2012 | Vidgren, G., Vainio-Siukola, K., Honkasalo, S., Dillard, K., Anttila, M., Vauhkonen, H. : | |
| Primary hyperoxaluria in Coton de Tulear. Anim Genet 43:356-61, 2012. Pubmed reference: 22486513. DOI: 10.1111/j.1365-2052.2011.02260.x. | ||
| 1991 | Danpure, C.J., Jennings, P.R., Jansen, J.H. : | |
| Enzymological characterization of a putative canine analogue of primary hyperoxaluria type 1. Biochim Biophys Acta 1096:134-8, 1991. Pubmed reference: 1672096. | ||
| 1990 | Jansen, J.H., Arnesen, K. : | |
| Oxalate nephropathy in a Tibetan spaniel litter. A probable case of primary hyperoxaluria. J Comp Pathol 103:79-84, 1990. Pubmed reference: 2394849. |
Edit History
- Created by Frank Nicholas on 04 Dec 2011
- Changed by Frank Nicholas on 04 Dec 2011
- Changed by Frank Nicholas on 12 Dec 2011