OMIA:001879-9615 : Cystinuria, type II - A in Canis lupus familiaris
Categories: Renal / urinary system phene
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal dominant
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2013
Cross-species summary: This entry has been created in line with the new expanded classification system for canine cystinuria suggested by Brons et al. (2013): "type I cystinuria when the disease shows autosomal recessive inheritance, type II when it shows autosomal dominant inheritance, and type III for sex-limited inheritance. . . . Involvement of the SLC3A1 gene is indicated by adding A, and similarly B indicates mutations in SLC7A9".
Inheritance: Brons et al. (2013) provided evidence consistent with autosomal dominant inheritance.
Molecular basis: Using the direct candidate gene strategy, based on clinical signs, Brons et al. (2013) identified "in-frame 6 bp deletion removing 2 of the 3 adjacent threonine residues in exon 6 of the SLC3A1 gene" (c.1095_1100del; p.Thr366_Thr367del) as causal in Australian Cattle Dogs.
Clinical features: As summarised by Brons et al. (2013), cystinuria type II - A is characterised by: present in males and females; not androgen-dependent; COLA [μmol/g creatinine (normal ≤500)] ≥8,000 in homozygotes and ≥3,000 in heterozygotes.
Breed: Australian Cattle Dog.
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|SLC3A1||solute carrier family 3 (amino acid transporter heavy chain), member 1||Canis lupus familiaris||10||NC_051814.1 (47580243..47618780)||SLC3A1||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|
|527||Australian Cattle Dog||Cystinuria, type II - A||SLC3A1||deletion, small (<=20)||Naturally occurring variant||CanFam3.1||10||g.46725151_46725156del||c.1098_1103del||p.(T367_T368del)||NM_001003109.1; NP_001003109.1; published as c.1095_1100delCACCAC; p.(T366_T367del); coordinates in the table have been updated to a recent reference genome and / or transcript||2013||24001348||Genomic position in CanFam3.1 provided by Robert Kuhn and Mateo Etcheveste.|
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.
|2021||Kovaříková, S., Maršálek, P., Vrbová, K. :|
|Cystinuria in dogs and cats: What do we know after almost 200 years? Animals (Basel) 11:2437, 2021. Pubmed reference: 34438894 . DOI: 10.3390/ani11082437.|
|2015||Bartges, J.W., Callens, A.J. :|
|Urolithiasis. Vet Clin North Am Small Anim Pract 45:747-68, 2015. Pubmed reference: 26002797 . DOI: 10.1016/j.cvsm.2015.03.001.|
|2013||Brons, A.K., Henthorn, P.S., Raj, K., Fitzgerald, C.A., Liu, J., Sewell, A.C., Giger, U. :|
|SLC3A1 and SLC7A9 mutations in autosomal recessive or dominant canine cystinuria: a new classification system. J Vet Intern Med 27:1400-8, 2013. Pubmed reference: 24001348 . DOI: 10.1111/jvim.12176.|
- Created by Frank Nicholas on 06 Sep 2013
- Changed by Frank Nicholas on 06 Sep 2013