OMIA:001672-9940 : Hyperoxaluria, primary, type I (Oxalosis I) in Ovis aries (sheep)
In other species: dog
Categories: Renal / urinary system phene
Links to MONDO diseases:
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2020
Inheritance: Letko et al. (2020): "This disorder is explained by a breed-specific recessively inherited pathogenic AGXT variant."
Molecular basis: Letko et al. (2020): "Whole-genome sequencing of two affected sheep identified a missense variant in the ovine AGXT gene (c.584G>A; p.Cys195Tyr)."
Have human generated variants been created, e.g. through genetic engineering and gene editing
Clinical features: Letko et al. (2020): "Affected animals present with a wide range of clinical signs including condition loss, inappetence, malaise, and, occasionally, respiratory signs, as well as an apparent sudden unexpected death."
Pathology: Letko et al. (2020): "Histopathology revealed widespread oxalate crystal deposition in kidneys of the cases."
Zwartbles (Sheep) (VBO_0001694).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|AGXT||alanine-glyoxylate aminotransferase||Ovis aries||1||NC_056054.1 (842559..828499)||AGXT||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|
|1252||Zwartbles (Sheep)||Type 1 Primary Hyperoxaluria||AGXT||missense||Naturally occurring variant||Oar_rambouillet_v1.0||1||g.801189C>T||c.584G>A||p.(C195Y)||NC_040252.1: g.801189C>T; XM_027966918.1: c.584G>A; XP_027822719.1: p.Cys195Tyr (Letko et al., 2020)||2020||33003365|
Cite this entry
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.
|2020||Letko, A., Dijkman, R., Strugnell, B., Häfliger, I.M., Paris, J.M., Henderson, K., Geraghty, T., Orr, H., Scholes, S., Drögemüller, C. :|
|Deleterious AGXT missense variant associated with type 1 primary hyperoxaluria (PH1) in Zwartbles sheep. Genes (Basel) 11:1147, 2020. Pubmed reference: 33003365. DOI: 10.3390/genes11101147.|
|2015||Barley, J., Hanna, R., McConnell, S. :|
|Oxalate nephrosis in Zwartble sheep Veterinary Ireland Journal 5:46-48, 2015.|
|2011||Strugnell, B.W., Gaudie, C.M., Wessels, M., Schock, A., Davies, I. :|
|Severe oxalate nephropathy in Zwartbles sheep. Vet Rec 169:81, 2011. Pubmed reference: 21765146. DOI: 10.1136/vr.d4471.|
- Created by Frank Nicholas on 03 Feb 2020
- Changed by Frank Nicholas on 24 Oct 2020
- Changed by Frank Nicholas on 05 Nov 2020