{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T11:16:55Z","timestamp":1792063015862,"version":"4.4.0"},"reference-count":21,"publisher":"MDPI AG","issue":"1","license":[{"start":{"date-parts":[[2026,1,22]],"date-time":"2026-01-22T00:00:00Z","timestamp":1769040000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Veterinary Sciences"],"abstract":"<jats:p>In Australian Cattle Dogs (AUCDs), cystinuria was reported to be an autosomal dominant trait caused by a 6 bp deletion in the SLC3A1 gene (type II-A). Here we report an androgen association in this breed. A family of 11 adult AUCDs (five intact and one neutered male and five females) was genotyped for the SLC3A1 c.1095_1100del variant, and urine was examined for concentrations of cystine, ornithine, lysine, and arginine (COLA). Among this family, three males and five females tested heterozygous for the mutation, while all other AUCDs were homozygous for the wild-type allele. The two heterozygous intact males had severe COLA-uria, which decreased markedly after castration. Neither the third heterozygous male with a history of cystine calculi but already castrated nor the five heterozygous females exhibited increased COLA-uria. Heterozygosity for the 6 bp deletion in the SLC3A1 gene was associated with cystinuria in intact male AUCDs, but not in females. Castration of the heterozygous males reduced the cystinuria. Either the type II-A cystinuria in the AUCDs is an androgen-associated dominant trait, or this family also has another type III (androgen-dependent) cystinuria. Larger surveys are needed to further define the type(s) of cystinuria and effects of castration in AUCDs.<\/jats:p>","DOI":"10.3390\/vetsci13010111","type":"journal-article","created":{"date-parts":[[2026,1,23]],"date-time":"2026-01-23T09:16:59Z","timestamp":1769159819000},"page":"111","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Cystinuria in an Australian Cattle Dog Family\u2014A Seemingly Androgen-Associated Autosomal Dominant Trait"],"prefix":"10.3390","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1547-0713","authenticated-orcid":false,"given":"Alexandra","family":"Kehl","sequence":"first","affiliation":[{"name":"Laboklin GmbH & Co. KG, 97688 Bad Kissingen, Germany"},{"name":"Comparative Experimental Pathology, School of Medicine, Technical University of Munich (TUM), 80333 Munich, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6162-7515","authenticated-orcid":false,"given":"Maria","family":"Brockmann","sequence":"additional","affiliation":[{"name":"Laboklin GmbH & Co. KG, 97688 Bad Kissingen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sabine","family":"Helmes","sequence":"additional","affiliation":[{"name":"Kleintierpraxis Helmes, 53347 Alfter, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Hildebrand","sequence":"additional","affiliation":[{"name":"Laboklin GmbH & Co. KG, 97688 Bad Kissingen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sabine","family":"D\u00f6ll","sequence":"additional","affiliation":[{"name":"Australian Cattle Dog Club Deutschland e.V., 97490 Maibach, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0829-2215","authenticated-orcid":false,"given":"Elisabeth","family":"Mueller","sequence":"additional","affiliation":[{"name":"Laboklin GmbH & Co. KG, 97688 Bad Kissingen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4770-4107","authenticated-orcid":false,"given":"Urs","family":"Giger","sequence":"additional","affiliation":[{"name":"Vetsuisse Faculty, University of Z\u00fcrich, 8057 Z\u00fcrich, Switzerland"},{"name":"School of Veterinary Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2026,1,22]]},"reference":[{"key":"ref_1","unstructured":"(2025, November 25). OMIA\u2014Online Mendelian Inheritance in Animals. Available online: https:\/\/www.omia.org\/home\/."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1007\/s004390000392","article-title":"Canine cystinuria: Polymorphism in the canine SLC3A1 gene and identification of a nonsense mutation in cystinuric Newfoundland dogs","volume":"107","author":"Henthorn","year":"2000","journal-title":"Hum. Genet."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"252","DOI":"10.1016\/j.tvjl.2006.08.017","article-title":"Inherited metabolic disease in companion animals: Searching for nature\u2019s mistakes","volume":"174","author":"Sewell","year":"2007","journal-title":"Vet. J."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1016\/j.cvsm.2008.09.006","article-title":"Changing paradigms in diagnosis of inherited defects associated with urolithiasis","volume":"39","author":"Bannasch","year":"2009","journal-title":"Vet. Clin. N. Am. Small Anim. Pract."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"1400","DOI":"10.1111\/jvim.12176","article-title":"SLC3A1 and SLC7A9 mutations in autosomal recessive or dominant canine cystinuria: A new classification system","volume":"27","author":"Brons","year":"2013","journal-title":"J. Vet. Intern. Med."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"537","DOI":"10.1111\/j.1748-5827.1966.tb04483.x","article-title":"Urolithiasis in the dog. II. Biochemical aspects","volume":"7","author":"Treacher","year":"1966","journal-title":"J. Small Anim. Pract."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"424","DOI":"10.1038\/nrneph.2010.69","article-title":"Pathophysiology and treatment of cystinuria","volume":"6","author":"Fort","year":"2010","journal-title":"Nat. Rev. Nephrol."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"1585","DOI":"10.2460\/javma.1995.207.12.1585","article-title":"Inheritance of cystinuria and renal defect in Newfoundlands","volume":"207","author":"Casal","year":"1995","journal-title":"J. Am. Vet. Med. Assoc."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"129","DOI":"10.2460\/javma.1992.201.01.129","article-title":"Cystine-containing urinary calculi in dogs: 102 cases (1981\u20131989)","volume":"201","author":"Case","year":"1992","journal-title":"J. Am. Vet. Med. Assoc."},{"key":"ref_10","first-page":"831","article-title":"Epidemiologic characteristics of 442 cases of cystinuria in dogs","volume":"68","year":"2018","journal-title":"Veterin\u00e1\u0159stv\u00ed"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"e70110","DOI":"10.1111\/jvim.70110","article-title":"Epidemiological Evaluation of Neuter Status, Sex, and Breed in Dogs with Cystine Uroliths","volume":"39","author":"Lulich","year":"2025","journal-title":"J. Vet. Intern. Med."},{"key":"ref_12","first-page":"718","article-title":"Characterization of non-type I cysti-nuria in Irish Terriers","volume":"25","author":"Giger","year":"2011","journal-title":"J. Vet. Intern. Med."},{"key":"ref_13","first-page":"454","article-title":"Cystinuria in Kromfohrl\u00e4nder Dogs: ESVNU-O-5","volume":"29","author":"Sewell","year":"2015","journal-title":"J. Vet. Intern. Med."},{"key":"ref_14","first-page":"277","article-title":"Canine cystine urolithiasis: A review of 1760 submissions over 35 years (1979\u20132013)","volume":"57","author":"Hesse","year":"2016","journal-title":"Can. Vet. J."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"174","DOI":"10.1136\/vr.103615","article-title":"Genetic evaluation of English bulldogs with cystine uroliths","volume":"179","author":"Ruggerone","year":"2016","journal-title":"Vet. Rec."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"531","DOI":"10.1111\/jsap.12707","article-title":"Association between cystine urolithiasis and neuter status of dogs within the UK","volume":"58","author":"Florey","year":"2017","journal-title":"J. Small Anim. Pract."},{"key":"ref_17","unstructured":"Giger, U., Brons, A., Mizukami, K., Slutsky, J., Raj, K., Fitzgerald, C.A., Strickland, S., Sewell, A.C., and Henthorn, P.S. (2015, January 15\u201318). Update on Fanconi syndrome and cystinuria. Proceedings of the 40th World Small Animal Veterinary Association Congress, Bangkok, Thailand."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"e70202","DOI":"10.1111\/jvim.70202","article-title":"Urinary Cystine\/Creatinine Concentrations Before and After Castration in Dogs with Suspected Androgen-Dependent Cystine Urolithiasis","volume":"39","author":"Larsen","year":"2025","journal-title":"J. Vet. Intern. Med."},{"key":"ref_19","doi-asserted-by":"crossref","unstructured":"Donner, J., Freyer, J., Davison, S., Anderson, H., Blades, M., Honkanen, L., Inman, L., Brookhart-Knox, C.A., Louviere, A., and Forman, O.P. (2023). Genetic prevalence and clinical relevance of canine Mendelian disease variants in over one million dogs. PLoS Genet., 19.","DOI":"10.1371\/journal.pgen.1010651"},{"key":"ref_20","doi-asserted-by":"crossref","unstructured":"Kova\u0159\u00edkov\u00e1, S., Mar\u0161\u00e1lek, P., and Vrbov\u00e1, K. (2021). Cystinuria in Dogs and Cats: What Do We Know after Almost 200 Years?. Animals, 11.","DOI":"10.3390\/ani11082437"},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1016\/S0195-5616(99)50011-9","article-title":"Canine cystine urolithiasis. Cause, detection, treatment, and prevention","volume":"29","author":"Osborne","year":"1999","journal-title":"Vet. Clin. N. Am. Small Anim. Pract."}],"container-title":["Veterinary Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2306-7381\/13\/1\/111\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,1,26]],"date-time":"2026-01-26T08:59:13Z","timestamp":1769417953000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2306-7381\/13\/1\/111"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,1,22]]},"references-count":21,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2026,1]]}},"alternative-id":["vetsci13010111"],"URL":"https:\/\/doi.org\/10.3390\/vetsci13010111","relation":{},"ISSN":["2306-7381"],"issn-type":[{"value":"2306-7381","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,1,22]]}}}