OMIA 001879-9615 : Cystinuria, type II - A in Canis lupus familiaris |
Possibly relevant human trait(s) and/or gene(s) (MIM number):
220100
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.
Associated gene:
| 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_006592.3 (46690555..46737417) | SLC3A1 | Homologene, Ensembl, NCBI gene |
Variants
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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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Australian Cattle Dog | Cystinuria, type II - A | SLC3A1 | deletion, small (<=20) | c.1095_1100del | p.Thr366_Thr367del | 2013 | 24001348 |
Reference
| 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. |
Edit History
- Created by Frank Nicholas on 06 Sep 2013
- Changed by Frank Nicholas on 06 Sep 2013